#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
AMOTL1	154810	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	94554897	94554897	+	Silent	SNP	C	C	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:94554897C>G	ENST00000433060.2	+	4	1464	c.1323C>G	c.(1321-1323)gcC>gcG	p.A441A	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Silent_p.A391A	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	441					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.A441A(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGGAGCGAGCCCAGCAAATGG	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	77.0	76.0					11																	94554897		1980	4161	6141	SO:0001819	synonymous_variant	154810			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1323C>G	11.37:g.94554897C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Silent	SNP	ENST00000433060.2	37	CCDS44712.1																																																																																				0.602	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3		NM_130847	
ANKIB1	54467	hgsc.bcm.edu;ucsc.edu	37	7	91974300	91974310	+	Frame_Shift_Del	DEL	TTGTATGTGCA	TTGTATGTGCA	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	TTGTATGTGCA	TTGTATGTGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:91974300_91974310delTTGTATGTGCA	ENST00000265742.3	+	7	1381_1391	c.1005_1015delTTGTATGTGCA	c.(1003-1017)atttgtatgtgcagtfs	p.ICMCS335fs		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	335							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGTGTGACATTTGTATGTGCAGTATCTCTGT	0.36																																																	0																																										SO:0001589	frameshift_variant	54467			AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1005_1015delTTGTATGTGCA	7.37:g.91974300_91974310delTTGTATGTGCA	ENSP00000265742:p.Ile335fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Frame_Shift_Del	DEL	ENST00000265742.3	37	CCDS47639.1																																																																																				0.360	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1			
ANKRD20A2	441430	hgsc.bcm.edu	37	9	42380186	42380189	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:42380186_42380189delTACT	ENST00000377601.2	+	6	885_888	c.773_776delTACT	c.(772-777)atacttfs	p.IL258fs	RNU6-1269P_ENST00000391139.1_RNA|ANKRD20A2_ENST00000477139.2_3'UTR	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	258										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						AAAAAGAAGATACTTAAAAAGGAG	0.255																																																	0																																										SO:0001589	frameshift_variant	441425				CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641	ENST00000377601.2:c.773_776delTACT	9.37:g.42380186_42380189delTACT	ENSP00000366826:p.Ile258fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000377601.2	37	CCDS35028.1																																																																																				0.255	ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129794.1		NM_001012421	
ARHGAP30	257106	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	161039395	161039395	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:161039395C>T	ENST00000368013.3	-	1	340	c.20G>A	c.(19-21)gGa>gAa	p.G7E	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.G7E|PVRL4_ENST00000486694.1_5'Flank|ARHGAP30_ENST00000368015.1_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	7					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.G7E(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTTCTTCTTTCCTTTCTGCCG	0.627																																																	2	Substitution - Missense(2)	kidney(2)											99.0	90.0	93.0					1																	161039395		2203	4300	6503	SO:0001583	missense	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.20G>A	1.37:g.161039395C>T	ENSP00000356992:p.Gly7Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Missense_Mutation	SNP	ENST00000368013.3	37	CCDS30918.1	.	.	.	.	.	.	.	.	.	.	C	16.34	3.094831	0.56075	.	.	ENSG00000186517	ENST00000368016;ENST00000368013	T;T	0.09911	3.01;2.93	4.64	4.64	0.57946	Rho GTPase-activating protein domain (1);	0.073554	0.51477	D	0.000083	T	0.11965	0.0291	L	0.36672	1.1	0.80722	D	1	D;D	0.76494	0.999;0.993	D;P	0.66979	0.948;0.896	T	0.01702	-1.1292	10	0.45353	T	0.12	.	10.1462	0.42764	0.1991:0.8009:0.0:0.0	.	7;7	Q7Z6I6;Q7Z6I6-2	RHG30_HUMAN;.	E	7	ENSP00000356995:G7E;ENSP00000356992:G7E	ENSP00000356992:G7E	G	-	2	0	ARHGAP30	159306019	0.912000	0.30974	1.000000	0.80357	0.969000	0.65631	1.762000	0.38451	2.376000	0.81061	0.655000	0.94253	GGA		0.627	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2		NM_181720	
ASPM	259266	hgsc.bcm.edu;ucsc.edu	37	1	197072929	197072929	+	Missense_Mutation	SNP	G	G	A	rs41299625	byFrequency	TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:197072929G>A	ENST00000367409.4	-	18	5708	c.5452C>T	c.(5452-5454)Cgc>Tgc	p.R1818C	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1818	IQ 8. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTAGCTGGCGTACTTTATAA	0.368													G|||	8	0.00159744	0.0	0.0058	5008	,	,		19443	0.001		0.002	False		,,,				2504	0.001																0								G	,CYS/ARG	4,4400	8.1+/-20.4	0,4,2198	94.0	97.0	96.0		,5452	5.7	0.6	1	dbSNP_127	96	17,8579	13.3+/-46.6	0,17,4281	yes	intron,missense	ASPM	NM_001206846.1,NM_018136.4	,180	0,21,6479	AA,AG,GG		0.1978,0.0908,0.1615	,probably-damaging	,1818/3478	197072929	21,12979	2202	4298	6500	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.5452C>T	1.37:g.197072929G>A	ENSP00000356379:p.Arg1818Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	7	0.003205128205128205	0	0.0	4	0.011049723756906077	1	0.0017482517482517483	2	0.002638522427440633	G	18.01	3.527730	0.64860	9.08E-4	0.001978	ENSG00000066279	ENST00000367409	T	0.65732	-0.17	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84009	0.5378	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.89996	0.4111	10	0.87932	D	0	.	19.8904	0.96928	0.0:0.0:1.0:0.0	rs41299625	1818	Q8IZT6	ASPM_HUMAN	C	1818	ENSP00000356379:R1818C	ENSP00000356379:R1818C	R	-	1	0	ASPM	195339552	1.000000	0.71417	0.587000	0.28692	0.829000	0.46940	5.374000	0.66167	2.697000	0.92050	0.650000	0.86243	CGC		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136	
ATM	472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	108236074	108236074	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:108236074A>G	ENST00000452508.2	+	64	9199	c.9010A>G	c.(9010-9012)Aaa>Gaa	p.K3004E	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.K3004E			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3004					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.K3004E(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	GAGTTTCAACAAAGTAGCTGA	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	2	Substitution - Missense(2)	kidney(2)											119.0	116.0	117.0					11																	108236074		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9010A>G	11.37:g.108236074A>G	ENSP00000388058:p.Lys3004Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	27.8	4.864010	0.91511	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.01538	4.79;4.79	5.22	5.22	0.72569	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.047335	0.85682	D	0.000000	T	0.09335	0.0230	M	0.78637	2.42	0.80722	D	1	D	0.64830	0.994	D	0.65773	0.938	T	0.14448	-1.0472	10	0.32370	T	0.25	.	15.3219	0.74129	1.0:0.0:0.0:0.0	.	3004	Q13315	ATM_HUMAN	E	3004	ENSP00000278616:K3004E;ENSP00000388058:K3004E	ENSP00000278616:K3004E	K	+	1	0	ATM	107741284	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	7.074000	0.76791	2.202000	0.70862	0.529000	0.55759	AAA		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1		NM_000051	
BEST3	144453	hgsc.bcm.edu	37	12	70088220	70088220	+	Frame_Shift_Del	DEL	T	T	-	rs566733141	byFrequency	TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:70088220delT	ENST00000330891.5	-	3	403	c.177delA	c.(175-177)aaafs	p.K59fs	BEST3_ENST00000553096.1_Intron|BEST3_ENST00000551160.1_5'UTR|BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Frame_Shift_Del_p.K59fs|BEST3_ENST00000533674.1_5'UTR|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000476098.1_Intron	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	59					negative regulation of ion transport (GO:0043271)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			CAAAGTAACGTTTTTGGACTC	0.373													TTTTT|TTTTT|TTTT|deletion	53	0.0105831	0.0008	0.0187	5008	,	,		17586	0.0		0.0288	False		,,,				2504	0.0102																0										3,28,3577		1,0,1,2,24,1776	101.0	94.0	96.0			5.1	1.0	12		98	0,284,7584		0,0,0,8,268,3658	no	codingComplex	BEST3	NM_032735.2		1,0,1,10,292,5434	A1A1,A1A2,A1R,A2A2,A2R,RR		3.6096,0.8592,2.7449			70088220	3,312,11161	1872	4113	5985	SO:0001589	frameshift_variant	144453			AF440758	CCDS8992.2, CCDS41810.1, CCDS61192.1, CCDS61193.1, CCDS73496.1	12q14.2-q15	2012-09-26	2006-10-18	2006-10-18	ENSG00000127325	ENSG00000127325		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17105	protein-coding gene	gene with protein product		607337	"""vitelliform macular dystrophy 2-like 3"""	VMD2L3		12032738	Standard	NM_032735		Approved	MGC40411, MGC13168	uc001svg.3	Q8N1M1	OTTHUMG00000149919	ENST00000330891.5:c.177delA	12.37:g.70088220delT	ENSP00000332413:p.Lys59fs	Somatic		WXS	Illumina HiSeq	Phase_I	B5MDI8|F8VVZ2|Q53YQ7|Q8N356|Q8NFT9|Q9BR80	Frame_Shift_Del	DEL	ENST00000330891.5	37	CCDS8992.2																																																																																				0.373	BEST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313908.2		NM_152439	
BRD7	29117	broad.mit.edu;hgsc.bcm.edu	37	16	50402667	50402667	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr16:50402667T>C	ENST00000394688.3	-	1	178	c.19A>G	c.(19-21)Aag>Gag	p.K7E	BRD7_ENST00000401491.3_5'UTR|RP11-21B23.1_ENST00000568427.1_RNA|BRD7_ENST00000394689.2_Missense_Mutation_p.K7E			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	7	Lys-rich.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K7E(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GACTTGTGCTTCTTGTGCTTC	0.746																																																	1	Substitution - Missense(1)	kidney(1)											27.0	26.0	26.0					16																	50402667		2180	4262	6442	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.19A>G	16.37:g.50402667T>C	ENSP00000378180:p.Lys7Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.157269	0.78114	.	.	ENSG00000166164	ENST00000394688;ENST00000394689;ENST00000401491	T;T	0.47869	0.85;0.83	3.0	1.9	0.25705	.	0.000000	0.85682	U	0.000000	T	0.43411	0.1246	M	0.71206	2.165	0.46774	D	0.999196	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.36359	-0.9751	10	0.66056	D	0.02	.	7.5994	0.28067	0.0:0.107:0.0:0.893	.	7;7	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	E	7	ENSP00000378180:K7E;ENSP00000378181:K7E	ENSP00000378180:K7E	K	-	1	0	BRD7	48960168	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.442000	0.44873	0.264000	0.21851	0.391000	0.25812	AAG		0.746	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263	
C15orf41	84529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	36984363	36984363	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr15:36984363G>T	ENST00000566621.1	+	7	713	c.463G>T	c.(463-465)Gac>Tac	p.D155Y	C15orf41_ENST00000562877.1_Missense_Mutation_p.D57Y|C15orf41_ENST00000338183.4_Missense_Mutation_p.D57Y|C15orf41_ENST00000437989.2_Missense_Mutation_p.D155Y|C15orf41_ENST00000569302.1_Missense_Mutation_p.D155Y|C15orf41_ENST00000567389.1_Missense_Mutation_p.D57Y	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	155								p.D155Y(1)		kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ACCACTAGTGGACTGCATCAA	0.438																																																	1	Substitution - Missense(1)	kidney(1)											93.0	86.0	88.0					15																	36984363		1879	4110	5989	SO:0001583	missense	84529			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.463G>T	15.37:g.36984363G>T	ENSP00000455397:p.Asp155Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD87	Missense_Mutation	SNP	ENST00000566621.1	37	CCDS45215.1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592667	0.46214	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.54071	0.59	6.03	5.11	0.69529	.	0.090481	0.85682	D	0.000000	T	0.67487	0.2898	M	0.78344	2.41	0.80722	D	1	D	0.63046	0.992	P	0.56042	0.79	T	0.71414	-0.4600	10	0.72032	D	0.01	-18.5444	14.727	0.69351	0.0686:0.0:0.9313:0.0	.	155	Q9Y2V0	CO041_HUMAN	Y	155;57	ENSP00000401362:D155Y	ENSP00000342433:D57Y	D	+	1	0	C15orf41	34771655	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	7.651000	0.83577	2.861000	0.98227	0.655000	0.94253	GAC		0.438	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419741.1		NM_032499	
NYAP1	222950	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	100085830	100085830	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:100085830G>A	ENST00000300179.2	+	4	645	c.486G>A	c.(484-486)caG>caA	p.Q162Q	NYAP1_ENST00000454988.1_Silent_p.Q105Q|NYAP1_ENST00000423930.1_Silent_p.Q162Q	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	162	Involved in CYFIP1- and NCKAP1-binding. {ECO:0000250}.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.Q162Q(1)									TTCCTCCGCAGAAGCCCAGGC	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											105.0	118.0	113.0					7																	100085830		2203	4300	6503	SO:0001819	synonymous_variant	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.486G>A	7.37:g.100085830G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6U9Y3|Q8N1V0	Silent	SNP	ENST00000300179.2	37	CCDS5696.1																																																																																				0.597	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2		NM_173564	
CCDC50	152137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	191087771	191087771	+	Missense_Mutation	SNP	C	C	T	rs376944531		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:191087771C>T	ENST00000392455.3	+	5	992	c.394C>T	c.(394-396)Cca>Tca	p.P132S	CCDC50_ENST00000392456.3_Missense_Mutation_p.P132S	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	132						cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)	p.P132S(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GAAACACTTTCCAGAGTTCCC	0.403																																																	1	Substitution - Missense(1)	kidney(1)											123.0	125.0	124.0					3																	191087771		2203	4300	6503	SO:0001583	missense	152137			AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.394C>T	3.37:g.191087771C>T	ENSP00000376249:p.Pro132Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516537	0.27123	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.31247	1.53;1.5	5.15	3.32	0.38043	.	0.200861	0.35525	N	0.003146	T	0.29491	0.0735	L	0.43701	1.375	0.29217	N	0.874199	B;P	0.40970	0.218;0.734	B;P	0.46510	0.056;0.519	T	0.13361	-1.0512	10	0.52906	T	0.07	.	5.6499	0.17610	0.196:0.7052:0.0:0.0988	.	132;132	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	S	132	ENSP00000376249:P132S;ENSP00000376250:P132S	ENSP00000376249:P132S	P	+	1	0	CCDC50	192570465	0.994000	0.37717	0.988000	0.46212	0.018000	0.09664	1.895000	0.39778	1.149000	0.42402	0.650000	0.86243	CCA		0.403	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1		NM_174908	
CHN1	1123	broad.mit.edu;hgsc.bcm.edu	37	2	175742574	175742574	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:175742574C>A	ENST00000409900.3	-	6	856	c.543G>T	c.(541-543)gaG>gaT	p.E181D	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.E181D	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	181					ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)	p.E181D(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTACCCTTTTCTCTGACACCC	0.408			T	TAF15	extraskeletal myxoid chondrosarcoma																																			Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	1	Substitution - Missense(1)	kidney(1)											88.0	80.0	83.0					2																	175742574		1858	4096	5954	SO:0001583	missense	1123				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.543G>T	2.37:g.175742574C>A	ENSP00000386741:p.Glu181Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	ENST00000409900.3	37	CCDS46455.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.862257	0.32884	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.71103	-0.54;-0.09	5.82	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	N	0.22421	0.69	0.48762	D	0.999707	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.46610	-0.9179	10	0.33141	T	0.24	.	5.313	0.15841	0.1771:0.6694:0.0:0.1535	.	181;181	B4DV19;P15882	.;CHIN_HUMAN	D	181	ENSP00000386741:E181D;ENSP00000386470:E181D	ENSP00000386470:E181D	E	-	3	2	CHN1	175450820	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.909000	0.28558	1.401000	0.46761	0.655000	0.94253	GAG		0.408	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334453.1		NM_001822	
CLSPN	63967	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36230877	36230877	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:36230877A>C	ENST00000318121.3	-	2	132	c.75T>G	c.(73-75)gaT>gaG	p.D25E	CLSPN_ENST00000520551.1_Missense_Mutation_p.D25E|CLSPN_ENST00000373220.3_Missense_Mutation_p.D25E|CLSPN_ENST00000251195.5_Missense_Mutation_p.D25E	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	25					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.D25E(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGAAGGACTATCTGCTTCCT	0.408																																																	2	Substitution - Missense(2)	kidney(2)											155.0	142.0	146.0					1																	36230877		2203	4300	6503	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.75T>G	1.37:g.36230877A>C	ENSP00000312995:p.Asp25Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	.	.	.	.	.	.	.	.	.	.	A	7.047	0.563762	0.13498	.	.	ENSG00000092853	ENST00000251195;ENST00000318121;ENST00000373220;ENST00000520551;ENST00000544356	T;T;T;T	0.23754	1.92;1.93;1.89;1.91	5.1	-5.61	0.02489	.	0.930982	0.09193	N	0.835781	T	0.11239	0.0274	L	0.27053	0.805	0.20873	N	0.999835	B;B	0.30605	0.001;0.287	B;B	0.28011	0.003;0.085	T	0.35051	-0.9804	10	0.11794	T	0.64	-2.2728	4.459	0.11657	0.253:0.1193:0.51:0.1177	.	25;25	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	E	25	ENSP00000251195:D25E;ENSP00000312995:D25E;ENSP00000362317:D25E;ENSP00000428848:D25E	ENSP00000251195:D25E	D	-	3	2	CLSPN	36003464	0.032000	0.19561	0.810000	0.32431	0.891000	0.51852	-0.373000	0.07494	-0.848000	0.04163	-1.074000	0.02243	GAT		0.408	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1		NM_022111	
CNTNAP4	85445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	76481968	76481968	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr16:76481968T>C	ENST00000476707.1	+	4	746	c.607T>C	c.(607-609)Tcc>Ccc	p.S203P	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S199P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S175P|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.S199P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	200					cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.S175P(2)|p.S199P(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGATCAAAAATCCCTGAGCCC	0.378																																																	3	Substitution - Missense(3)	kidney(3)											77.0	77.0	77.0					16																	76481968		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.607T>C	16.37:g.76481968T>C	ENSP00000417628:p.Ser203Pro	Somatic		WXS	Illumina HiSeq	Phase_I	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	10.65	1.410011	0.25465	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.21	2.91	0.33838	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.187943	0.26133	N	0.026159	T	0.60025	0.2237	.	.	.	0.30190	N	0.799587	B;B;B;B	0.14438	0.001;0.01;0.001;0.002	B;B;B;B	0.20577	0.005;0.03;0.003;0.013	T	0.49293	-0.8955	9	0.23891	T	0.37	.	4.5092	0.11903	0.0:0.2421:0.1622:0.5956	.	175;203;175;200	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	P	199;199;175;203	ENSP00000306893:S199P;ENSP00000439733:S199P;ENSP00000418741:S175P;ENSP00000417628:S203P	ENSP00000306893:S199P	S	+	1	0	CNTNAP4	75039469	0.997000	0.39634	0.995000	0.50966	0.996000	0.88848	2.221000	0.42917	0.420000	0.25954	0.460000	0.39030	TCC		0.378	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401	
COL6A3	1293	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238277415	238277415	+	Missense_Mutation	SNP	C	C	T	rs368151192		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:238277415C>T	ENST00000295550.4	-	10	5143	c.4691G>A	c.(4690-4692)cGt>cAt	p.R1564H	COL6A3_ENST00000346358.4_Missense_Mutation_p.R1364H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1363H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1358H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R957H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1358H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1564	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1564H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGAGGAACGGATCACCTG	0.582																																																	1	Substitution - Missense(1)	kidney(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	130.0	117.0	121.0		4073,2870,4691	2.5	0.0	2		121	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	COL6A3	NM_057167.3,NM_057166.4,NM_004369.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	1358/2972,957/2571,1564/3178	238277415	1,13005	2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4691G>A	2.37:g.238277415C>T	ENSP00000295550:p.Arg1564His	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	C	3.051	-0.195338	0.06259	0.0	1.16E-4	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;-1.45;-1.45	5.36	2.55	0.30701	von Willebrand factor, type A (3);	1.106060	0.06868	N	0.800283	T	0.66519	0.2797	N	0.25031	0.7	0.09310	N	1	B;B;B	0.20550	0.046;0.004;0.004	B;B;B	0.20955	0.032;0.01;0.002	T	0.53599	-0.8416	10	0.44086	T	0.13	.	1.7554	0.02981	0.1265:0.3748:0.2731:0.2257	.	957;1358;1564	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	H	1564;1363;1358;957;1358;1364	ENSP00000295550:R1564H;ENSP00000315609:R1363H;ENSP00000315873:R1358H;ENSP00000418285:R957H;ENSP00000386844:R1358H;ENSP00000295546:R1364H	ENSP00000295550:R1564H	R	-	2	0	COL6A3	237942154	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.316000	0.19469	0.239000	0.21243	0.655000	0.94253	CGT		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2		NM_004369	
CORO2A	7464	hgsc.bcm.edu	37	9	100919886	100919887	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:100919886_100919887insG	ENST00000343933.5	-	2	313_314	c.56_57insC	c.(55-57)ccafs	p.P19fs	CORO2A_ENST00000375077.4_Frame_Shift_Ins_p.P19fs	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	19					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)	actin cytoskeleton (GO:0015629)|transcriptional repressor complex (GO:0017053)	actin filament binding (GO:0051015)			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CCTTGCTGGCTGGTTTGCCAAA	0.559																																																	0																																										SO:0001589	frameshift_variant	7464			U57057	CCDS6735.1	9q22.3	2013-01-10	2001-11-28		ENSG00000106789	ENSG00000106789		"""Coronins"", ""WD repeat domain containing"""	2255	protein-coding gene	gene with protein product	"""coronin 2A"", ""coronin-like protein B"", ""WD protein IR10"", ""WD-repeat protein 2"""	602159	"""coronin, actin-binding protein, 2A"""			8985118	Standard	NM_052820		Approved	IR10, WDR2	uc004aym.3	Q92828	OTTHUMG00000020340	ENST00000343933.5:c.57dupC	9.37:g.100919888_100919888dupG	ENSP00000343746:p.Pro19fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBR5|Q92829|Q9BWS5	Frame_Shift_Ins	INS	ENST00000343933.5	37	CCDS6735.1																																																																																				0.559	CORO2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053357.1		NM_003389	
CRIPAK	285464	broad.mit.edu;hgsc.bcm.edu	37	4	1389122	1389122	+	Nonsense_Mutation	SNP	C	C	T	rs552730277		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:1389122C>T	ENST00000324803.4	+	1	3783	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	275					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R275*(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCTCACGTGCCGATGTGGGGT	0.682													C|||	1	0.000199681	0.0	0.0	5008	,	,		12421	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Nonsense(1)	kidney(1)											150.0	138.0	142.0					4																	1389122		2202	4299	6501	SO:0001587	stop_gained	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.823C>T	4.37:g.1389122C>T	ENSP00000323978:p.Arg275*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NB03	Nonsense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	54	22.846036	0.99951	.	.	ENSG00000179979	ENST00000324803;ENST00000382944	.	.	.	0.578	-1.16	0.09678	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	2.5553	0.04758	0.3159:0.3672:0.3169:0.0	.	.	.	.	X	275;217	.	ENSP00000323978:R275X	R	+	1	2	CRIPAK	1379122	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-1.052000	0.03503	-0.373000	0.07979	0.407000	0.27541	CGA		0.682	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2		NM_175918	
DCAF8L1	139425	broad.mit.edu;hgsc.bcm.edu	37	X	27998267	27998267	+	Silent	SNP	G	G	A	rs371674204		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chrX:27998267G>A	ENST00000441525.1	-	1	1299	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	395								p.C395C(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGTACACAACGCAGGTGATGT	0.418																																																	1	Substitution - coding silent(1)	kidney(1)						G		0,3833		0,0,1631,571	98.0	89.0	92.0		1185	-0.7	0.0	X		92	1,6727		0,1,2427,1872	no	coding-synonymous	DCAF8L1	NM_001017930.1		0,1,4058,2443	AA,AG,GG,G		0.0149,0.0,0.0095		395/601	27998267	1,10560	2202	4300	6502	SO:0001819	synonymous_variant	139425				CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.1185C>T	X.37:g.27998267G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXX1	Silent	SNP	ENST00000441525.1	37	CCDS35222.1																																																																																				0.418	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2		XM_066690	
DENND4A	10260	broad.mit.edu;hgsc.bcm.edu	37	15	65957783	65957783	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr15:65957783C>T	ENST00000431932.2	-	29	5335	c.5127G>A	c.(5125-5127)atG>atA	p.M1709I	DENND4A_ENST00000443035.3_Missense_Mutation_p.M1752I	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1709					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.M1711I(1)|p.M1752I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TATCTTCAGACATACAGTGGC	0.308																																																	2	Substitution - Missense(2)	kidney(2)											111.0	109.0	110.0					15																	65957783		1866	4119	5985	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.5127G>A	15.37:g.65957783C>T	ENSP00000396830:p.Met1709Ile	Somatic		WXS	Illumina HiSeq	Phase_I	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	37	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852275	0.51270	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04758	3.58;3.56	5.71	5.71	0.89125	.	0.200060	0.53938	D	0.000057	T	0.08133	0.0203	L	0.44542	1.39	0.48696	D	0.99969	P;D	0.65815	0.94;0.995	P;P	0.47251	0.542;0.53	T	0.32798	-0.9893	10	0.30854	T	0.27	.	15.4549	0.75305	0.1393:0.8607:0.0:0.0	.	1752;1709	E7EPL3;Q7Z401	.;MYCPP_HUMAN	I	1752;1709	ENSP00000391167:M1752I;ENSP00000396830:M1709I	ENSP00000396830:M1709I	M	-	3	0	DENND4A	63744837	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.970000	0.56824	2.688000	0.91661	0.655000	0.94253	ATG		0.308	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1		NM_005848	
DKC1	1736	hgsc.bcm.edu	37	X	154005088	154005089	+	In_Frame_Ins	INS	-	-	AAG			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chrX:154005088_154005089insAAG	ENST00000369550.5	+	15	1701_1702	c.1491_1492insAAG	c.(1492-1494)aag>AAGaag	p.498_498K>KK	SNORA56_ENST00000383966.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	498	Nuclear and nucleolar localization.				cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTGATACCACCaagaagaagaa	0.411									Congenital Dyskeratosis					34	0.00900662	0.0008	0.0072	3775	,	,		16089	0.0		0.004	False		,,,				2504	0.0245																0																																										SO:0001652	inframe_insertion	1736	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.1510_1512dupAAG	X.37:g.154005095_154005097dupAAG	ENSP00000358563:p.Lys505dup	Somatic		WXS	Illumina HiSeq	Phase_I	F5BSB3|O43845|Q96G67|Q9Y505	In_Frame_Ins	INS	ENST00000369550.5	37	CCDS14761.1																																																																																				0.411	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061180.5		NM_001363	
EGF	1950	hgsc.bcm.edu	37	4	110865129	110865130	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:110865129_110865130insG	ENST00000265171.5	+	4	1086_1087	c.641_642insG	c.(640-645)ctgtttfs	p.F215fs	EGF_ENST00000503392.1_Frame_Shift_Ins_p.F215fs|EGF_ENST00000509793.1_Frame_Shift_Ins_p.F215fs	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	215					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GATAAGCGGCTGTTTTGGATTC	0.426																																																	0																																										SO:0001589	frameshift_variant	1950			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.642dupG	4.37:g.110865130_110865130dupG	ENSP00000265171:p.Phe215fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Frame_Shift_Ins	INS	ENST00000265171.5	37	CCDS3689.1																																																																																				0.426	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			
AGO2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141549418	141549418	+	Splice_Site	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:141549418C>T	ENST00000220592.5	-	16	2282		c.e16+1		AGO2_ENST00000519980.1_Splice_Site	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.?(1)									CAGAAACTCACCCGCTCGTTC	0.592																																																	1	Unknown(1)	kidney(1)											79.0	80.0	80.0					8																	141549418		2203	4300	6503	SO:0001630	splice_region_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2169+1G>A	8.37:g.141549418C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCZ5|Q8WV58|Q96ID1	Splice_Site	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530036	0.64860	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8564	0.92254	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EIF2C2	141618600	1.000000	0.71417	1.000000	0.80357	0.584000	0.36387	7.755000	0.85180	2.512000	0.84698	0.655000	0.94253	.		0.592	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			Intron
EPHX2	2053	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27362496	27362496	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:27362496A>T	ENST00000521400.1	+	4	800	c.370A>T	c.(370-372)Aac>Tac	p.N124Y	EPHX2_ENST00000521780.1_Missense_Mutation_p.N58Y|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000518379.1_Missense_Mutation_p.N124Y|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.N71Y	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	124	Phosphatase.|Phosphate binding.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.N124Y(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		CATCCTCACCAACACCTGGCT	0.542																																																	1	Substitution - Missense(1)	kidney(1)											100.0	86.0	91.0					8																	27362496		2203	4300	6503	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.370A>T	8.37:g.27362496A>T	ENSP00000430269:p.Asn124Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.251888	0.80135	.	.	ENSG00000120915	ENST00000521400;ENST00000518328;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22	5.56	5.56	0.83823	Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.51398	0.1672	M	0.92784	3.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63238	-0.6682	10	0.87932	D	0	-2.5162	13.9483	0.64099	1.0:0.0:0.0:0.0	.	124;124;124	E5RFU2;E7ETW9;P34913	.;.;HYES_HUMAN	Y	124;124;58;71;128;124	ENSP00000430269:N124Y;ENSP00000430779:N124Y;ENSP00000430302:N58Y;ENSP00000369843:N71Y;ENSP00000427956:N124Y	ENSP00000369843:N71Y	N	+	1	0	EPHX2	27418413	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	5.912000	0.69948	2.241000	0.73720	0.533000	0.62120	AAC		0.542	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4			
AGO2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141566069	141566069	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:141566069T>C	ENST00000220592.5	-	10	1307	c.1195A>G	c.(1195-1197)Atc>Gtc	p.I399V	AGO2_ENST00000519980.1_Missense_Mutation_p.I399V	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	399					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.I399V(1)									TTGACCATGATTCCAAATTCA	0.577																																																	1	Substitution - Missense(1)	kidney(1)											112.0	101.0	105.0					8																	141566069		2203	4300	6503	SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1195A>G	8.37:g.141566069T>C	ENSP00000220592:p.Ile399Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1	.	.	.	.	.	.	.	.	.	.	T	15.62	2.886121	0.51908	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.07021	3.23;3.23	5.33	5.33	0.75918	.	0.050140	0.85682	D	0.000000	T	0.11495	0.0280	L	0.52759	1.655	0.47737	D	0.999501	B;B	0.10296	0.003;0.003	B;B	0.20184	0.028;0.008	T	0.03453	-1.1035	10	0.46703	T	0.11	-0.3359	15.595	0.76572	0.0:0.0:0.0:1.0	.	399;399	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	V	399	ENSP00000220592:I399V;ENSP00000430176:I399V	ENSP00000220592:I399V	I	-	1	0	EIF2C2	141635251	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.544000	0.60691	2.153000	0.67306	0.533000	0.62120	ATC		0.577	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			
F2RL1	2150	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	76128711	76128711	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr5:76128711C>T	ENST00000296677.4	+	2	485	c.279C>T	c.(277-279)aaC>aaT	p.N93N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	93					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)	p.N93N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGCCAAGTAACGGCATGGCCC	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											207.0	193.0	198.0					5																	76128711		2203	4300	6503	SO:0001819	synonymous_variant	2150			BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.279C>T	5.37:g.76128711C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q13317|Q13346|Q53XJ8	Silent	SNP	ENST00000296677.4	37	CCDS4033.1																																																																																				0.483	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2			
FAM120A	23196	broad.mit.edu;hgsc.bcm.edu	37	9	96214409	96214409	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:96214409G>T	ENST00000277165.6	+	1	406	c.212G>T	c.(211-213)tGg>tTg	p.W71L	FAM120AOS_ENST00000479094.1_5'Flank|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000333936.5_Missense_Mutation_p.W71L|FAM120A_ENST00000340893.4_Missense_Mutation_p.W71L|FAM120A_ENST00000375389.3_Missense_Mutation_p.W71L|FAM120AOS_ENST00000423591.1_5'Flank	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	71						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)	p.W71L(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCGGCCAGTGGAACCACATG	0.692																																																	1	Substitution - Missense(1)	kidney(1)											11.0	14.0	13.0					9																	96214409		2117	4163	6280	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.212G>T	9.37:g.96214409G>T	ENSP00000277165:p.Trp71Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295355	0.95574	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.64991	-0.13;0.59;0.54;0.6	3.5	3.5	0.40072	.	0.000000	0.40469	U	0.001086	T	0.77219	0.4098	M	0.71206	2.165	0.58432	D	0.999999	D;D	0.89917	0.996;1.0	D;D	0.85130	0.986;0.997	T	0.81369	-0.0964	10	0.87932	D	0	-3.7482	14.9742	0.71257	0.0:0.0:1.0:0.0	.	71;71	Q9NZB2;Q9NZB2-2	F120A_HUMAN;.	L	71	ENSP00000364538:W71L;ENSP00000277165:W71L;ENSP00000334918:W71L;ENSP00000344698:W71L	ENSP00000277165:W71L	W	+	2	0	FAM120A	95254230	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.785000	0.91822	1.669000	0.50854	0.462000	0.41574	TGG		0.692	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2		NM_014612	
FRMD4A	55691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13702514	13702514	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr10:13702514G>A	ENST00000357447.2	-	20	2068	c.1700C>T	c.(1699-1701)tCt>tTt	p.S567F	FRMD4A_ENST00000378503.1_Missense_Mutation_p.S567F|FRMD4A_ENST00000358621.4_Missense_Mutation_p.S552F	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	567					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.S567F(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTTGTGAGGAGAATGTAGGGG	0.587											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											100.0	97.0	98.0					10																	13702514		2203	4300	6503	SO:0001583	missense	55691			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1700C>T	10.37:g.13702514G>A	ENSP00000350032:p.Ser567Phe	Somatic	689	WXS	Illumina HiSeq	Phase_I	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693543	0.88735	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.84370	-1.84;-1.84;-1.84	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.88691	0.6505	L	0.46157	1.445	0.80722	D	1	D	0.67145	0.996	P	0.56788	0.806	D	0.88927	0.3370	10	0.59425	D	0.04	-10.4462	19.6212	0.95656	0.0:0.0:1.0:0.0	.	567	Q9P2Q2	FRM4A_HUMAN	F	552;567;567	ENSP00000351438:S552F;ENSP00000350032:S567F;ENSP00000367764:S567F	ENSP00000350032:S567F	S	-	2	0	FRMD4A	13742520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.803000	0.85983	2.648000	0.89879	0.462000	0.41574	TCT		0.587	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1		NM_018027	
GRM5	2915	broad.mit.edu;hgsc.bcm.edu	37	11	88780709	88780709	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:88780709T>G	ENST00000305447.4	-	1	481	c.332A>C	c.(331-333)gAg>gCg	p.E111A	GRM5_ENST00000305432.5_Missense_Mutation_p.E111A|GRM5_ENST00000393297.1_Missense_Mutation_p.E111A|GRM5_ENST00000455756.2_Missense_Mutation_p.E111A|GRM5_ENST00000418177.2_Missense_Mutation_p.E111A|GRM5_ENST00000393294.3_Missense_Mutation_p.E111A	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	111					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.E111V(2)|p.E111A(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	TCTTATGAACTCAATGCTCTG	0.517																																																	4	Substitution - Missense(4)	lung(2)|kidney(2)											75.0	65.0	68.0					11																	88780709		2201	4299	6500	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.332A>C	11.37:g.88780709T>G	ENSP00000306138:p.Glu111Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095362	0.76870	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	T;T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23;-0.23	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.77260	0.4104	L	0.51914	1.62	0.58432	D	0.999999	P;D;D	0.89917	0.928;0.999;1.0	P;D;D	0.87578	0.831;0.988;0.998	T	0.76476	-0.2945	9	.	.	.	.	15.4282	0.75072	0.0:0.0:0.0:1.0	.	111;111;111	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	A	111	ENSP00000402912:E111A;ENSP00000405690:E111A;ENSP00000305905:E111A;ENSP00000306138:E111A;ENSP00000376975:E111A;ENSP00000376972:E111A	.	E	-	2	0	GRM5	88420357	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.884000	0.87274	2.033000	0.60031	0.460000	0.39030	GAG		0.517	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1		NM_000842	
HECTD3	79654	broad.mit.edu;hgsc.bcm.edu	37	1	45476654	45476654	+	Silent	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:45476654G>C	ENST00000372172.4	-	1	347	c.276C>G	c.(274-276)gcC>gcG	p.A92A	UROD_ENST00000246337.4_5'Flank|HECTD3_ENST00000372168.3_5'Flank	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	92					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.A92A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TGCTGTCGCGGGCGGCGCGGA	0.751																																																	1	Substitution - coding silent(1)	kidney(1)											8.0	8.0	8.0					1																	45476654		1301	3023	4324	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.276C>G	1.37:g.45476654G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	ENST00000372172.4	37	CCDS41318.1																																																																																				0.751	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023734.1		NM_024602	
HUS1	3364	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48015247	48015247	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:48015247C>T	ENST00000258774.5	-	5	526	c.503G>A	c.(502-504)aGt>aAt	p.S168N	HUS1_ENST00000432325.1_Missense_Mutation_p.S147N	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	168					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.S168N(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				TTCCACAACACTCTTCATAGT	0.333								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)												1	Substitution - Missense(1)	kidney(1)											100.0	87.0	91.0					7																	48015247		2202	4299	6501	SO:0001583	missense	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.503G>A	7.37:g.48015247C>T	ENSP00000258774:p.Ser168Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	C	10.90	1.480380	0.26598	.	.	ENSG00000136273	ENST00000258774;ENST00000432325;ENST00000432627	T;T;T	0.11604	2.76;2.76;2.76	5.29	4.41	0.53225	.	0.045450	0.85682	D	0.000000	T	0.07548	0.0190	N	0.17764	0.52	0.53005	D	0.999969	B	0.02656	0.0	B	0.10450	0.005	T	0.27262	-1.0079	10	0.24483	T	0.36	-12.4434	11.8856	0.52600	0.0:0.9146:0.0:0.0854	.	168	O60921	HUS1_HUMAN	N	168;147;147	ENSP00000258774:S168N;ENSP00000416588:S147N;ENSP00000404855:S147N	ENSP00000258774:S168N	S	-	2	0	HUS1	47981772	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.368000	0.52357	1.357000	0.45904	0.650000	0.86243	AGT		0.333	HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1		NM_004507	
INCENP	3619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61897891	61897892	+	Missense_Mutation	DNP	AC	AC	TT			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:61897891_61897892AC>TT	ENST00000394818.3	+	4	1094_1095	c.892_893AC>TT	c.(892-894)ACg>TTg	p.T298L	INCENP_ENST00000278849.4_Missense_Mutation_p.T298L	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	298					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.T298>?(2)|p.T298M(2)|p.T298S(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGGCTCTCGCACGGACTCTCAA	0.629																																																	6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	Exception_encountered	11.37:g.61897891_61897892delinsTT	ENSP00000378295:p.Thr298Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1																																																																																				0.629	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2		NM_020238	
KIAA0319	9856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24569057	24569057	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr6:24569057G>T	ENST00000378214.3	-	13	2616	c.2092C>A	c.(2092-2094)Cag>Aag	p.Q698K	KIAA0319_ENST00000535378.1_Missense_Mutation_p.Q689K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.Q698K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.Q698K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.Q653K	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	698	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Q698K(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCCCTGCTGGTCTTTCACT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											137.0	113.0	121.0					6																	24569057		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2092C>A	6.37:g.24569057G>T	ENSP00000367459:p.Gln698Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190141	0.38707	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6	3.73	2.8	0.32819	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (1);	0.467391	0.17855	N	0.159730	T	0.07052	0.0179	M	0.65498	2.005	0.31897	N	0.616406	P;B;P	0.34615	0.459;0.4;0.454	B;B;B	0.34138	0.16;0.11;0.176	T	0.07986	-1.0744	10	0.39692	T	0.17	-7.224	9.2555	0.37581	0.0:0.1565:0.682:0.1615	.	698;689;698	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	K	698;689;653;698;698	ENSP00000439700:Q698K;ENSP00000442403:Q689K;ENSP00000401086:Q653K;ENSP00000367459:Q698K;ENSP00000437656:Q698K	ENSP00000367459:Q698K	Q	-	1	0	KIAA0319	24677036	0.268000	0.24133	1.000000	0.80357	0.898000	0.52572	0.546000	0.23284	1.906000	0.55180	0.585000	0.79938	CAG		0.567	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1		NM_014809	
UNC79	57578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94088745	94088745	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:94088745C>T	ENST00000393151.2	+	30	5166	c.5166C>T	c.(5164-5166)gaC>gaT	p.D1722D	UNC79_ENST00000555664.1_Silent_p.D1722D|UNC79_ENST00000256339.4_Silent_p.D1545D|UNC79_ENST00000553484.1_Silent_p.D1744D			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1722					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1545D(1)|p.D1744D(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACCCTATGGACGCCGAAGGAT	0.512																																																	2	Substitution - coding silent(2)	kidney(2)											68.0	72.0	71.0					14																	94088745		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5166C>T	14.37:g.94088745C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.512	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1		XM_028395	
KRTAP10-5	386680	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	46000020	46000020	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr21:46000020A>G	ENST00000400372.1	-	1	461	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	146	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S146P(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GAATCCTCAGAACAGGTGGGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											153.0	155.0	154.0					21																	46000020		2203	4300	6503	SO:0001583	missense	386680			AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.436T>C	21.37:g.46000020A>G	ENSP00000383223:p.Ser146Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	a	1.404	-0.577305	0.03854	.	.	ENSG00000241123	ENST00000400372	T	0.01359	4.98	3.33	0.886	0.19194	.	.	.	.	.	T	0.03178	0.0093	M	0.89214	3.015	0.09310	N	1	B	0.18461	0.028	B	0.16289	0.015	T	0.25847	-1.0120	9	0.72032	D	0.01	.	5.7562	0.18174	0.7416:0.0:0.2584:0.0	.	146	P60370	KR105_HUMAN	P	146	ENSP00000383223:S146P	ENSP00000383223:S146P	S	-	1	0	KRTAP10-5	44824448	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	-1.532000	0.02217	0.303000	0.22785	0.374000	0.22700	TCT		0.602	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			
LMLN	89782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	197707203	197707203	+	Missense_Mutation	SNP	C	C	T	rs370291786		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:197707203C>T	ENST00000330198.4	+	6	578	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	LMLN_ENST00000420910.2_Missense_Mutation_p.R186W|LMLN_ENST00000482695.1_Missense_Mutation_p.R134W|LMLN_ENST00000332636.5_Missense_Mutation_p.R134W	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	186					cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R186W(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GCAGCAATGCCGGGTCTACCG	0.488																																																	1	Substitution - Missense(1)	kidney(1)						C	TRP/ARG,TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	106.0	104.0	105.0		556,556	2.2	1.0	3		105	0,8600		0,0,4300	no	missense,missense	LMLN	NM_033029.3,NM_001136049.2	101,101	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign	186/656,186/693	197707203	2,13004	2203	4300	6503	SO:0001583	missense	89782			AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.556C>T	3.37:g.197707203C>T	ENSP00000328829:p.Arg186Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Missense_Mutation	SNP	ENST00000330198.4	37	CCDS3332.1	.	.	.	.	.	.	.	.	.	.	C	14.37	2.513873	0.44763	4.54E-4	0.0	ENSG00000185621	ENST00000482695;ENST00000330198;ENST00000419117;ENST00000420910;ENST00000332636	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	4.72	2.16	0.27623	.	0.109676	0.64402	D	0.000009	T	0.35998	0.0951	L	0.49126	1.545	0.46203	D	0.998921	P;B;B;P	0.37398	0.593;0.354;0.136;0.539	B;B;B;B	0.35278	0.117;0.109;0.023;0.199	T	0.13656	-1.0501	10	0.42905	T	0.14	-14.4864	6.5323	0.22334	0.6884:0.1599:0.0:0.1516	.	186;134;186;134	Q96KR4;F8WCE5;F8WB28;Q96KR4-2	LMLN_HUMAN;.;.;.	W	134;186;114;186;134	ENSP00000418324:R134W;ENSP00000328829:R186W;ENSP00000390872:R114W;ENSP00000410926:R186W;ENSP00000328611:R134W	ENSP00000328829:R186W	R	+	1	2	LMLN	199191600	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.426000	0.52778	0.954000	0.37851	-0.265000	0.10407	CGG		0.488	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1		NM_033029	
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu	37	8	23167334	23167334	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:23167334T>G	ENST00000389131.3	-	10	2096	c.1727A>C	c.(1726-1728)gAg>gCg	p.E576A		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	576	Lysyl-oxidase like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.E576A(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCAGTTCTCCTCCATGGCACA	0.657																																																	1	Substitution - Missense(1)	kidney(1)											49.0	44.0	46.0					8																	23167334		2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.1727A>C	8.37:g.23167334T>G	ENSP00000373783:p.Glu576Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.024912	0.93518	.	.	ENSG00000134013	ENST00000389131	T	0.40756	1.02	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.73063	0.3539	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.80621	-0.1301	10	0.66056	D	0.02	.	14.748	0.69501	0.0:0.0:0.0:1.0	.	576;576	B2R5Q0;Q9Y4K0	.;LOXL2_HUMAN	A	576	ENSP00000373783:E576A	ENSP00000373783:E576A	E	-	2	0	LOXL2	23223279	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.163000	0.67991	0.459000	0.35465	GAG		0.657	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			
LRP1	4035	broad.mit.edu;hgsc.bcm.edu	37	12	57588284	57588284	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:57588284C>A	ENST00000243077.3	+	49	8532	c.8066C>A	c.(8065-8067)cCa>cAa	p.P2689Q	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2689	LDL-receptor class A 14. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.P2689Q(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGCGACTGCCCAGGTGGGCGG	0.672																																																	1	Substitution - Missense(1)	kidney(1)											77.0	79.0	78.0					12																	57588284		2203	4298	6501	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8066C>A	12.37:g.57588284C>A	ENSP00000243077:p.Pro2689Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543375	0.45280	.	.	ENSG00000123384	ENST00000243077	T	0.59083	0.29	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000001	T	0.70439	0.3224	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63739	-0.6569	10	0.12430	T	0.62	.	17.2534	0.87048	0.0:1.0:0.0:0.0	.	2689	Q07954	LRP1_HUMAN	Q	2689	ENSP00000243077:P2689Q	ENSP00000243077:P2689Q	P	+	2	0	LRP1	55874551	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.969000	0.70422	2.598000	0.87819	0.462000	0.41574	CCA		0.672	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332	
ME3	10873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	86159278	86159278	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:86159278T>C	ENST00000393324.3	-	10	1404	c.1151A>G	c.(1150-1152)cAt>cGt	p.H384R	ME3_ENST00000543262.1_Missense_Mutation_p.H384R|ME3_ENST00000359636.2_Missense_Mutation_p.H384R|RP11-317J19.1_ENST00000524610.1_RNA	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	384					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)	p.H384R(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				CTCCTTTTCATGGTTCAGGTG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											161.0	113.0	129.0					11																	86159278		2202	4299	6501	SO:0001583	missense	10873			X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.1151A>G	11.37:g.86159278T>C	ENSP00000376998:p.His384Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	T	11.27	1.588731	0.28357	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.61	3.09	0.35607	Malic enzyme, NAD-binding (2);NAD(P)-binding domain (1);	0.179701	0.64402	D	0.000010	T	0.34221	0.0890	L	0.46741	1.465	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.10941	-1.0608	9	.	.	.	-12.4078	11.9783	0.53105	0.0:0.0:0.2743:0.7257	.	384	Q16798	MAON_HUMAN	R	384	ENSP00000352657:H384R;ENSP00000440246:H384R;ENSP00000376998:H384R;ENSP00000431182:H384R	.	H	-	2	0	ME3	85836926	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.773000	0.62331	0.911000	0.36747	0.528000	0.53228	CAT		0.532	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49443747	49443747	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:49443747G>A	ENST00000301067.7	-	11	3623	c.3624C>T	c.(3622-3624)atC>atT	p.I1208I		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1208					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.I935I(1)|p.I1208I(1)									TCAGATTAGAGATCTCGTTAA	0.607																																																	2	Substitution - coding silent(2)	kidney(2)											48.0	53.0	51.0					12																	49443747		1982	4160	6142	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3624C>T	12.37:g.49443747G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.607	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MRPL1	65008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	78792972	78792972	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:78792972A>T	ENST00000315567.8	+	2	435	c.106A>T	c.(106-108)Atc>Ttc	p.I36F		NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	36					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I36F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						TTCTGTAAACATCCGAGTGCC	0.308																																																	1	Substitution - Missense(1)	kidney(1)											110.0	103.0	105.0					4																	78792972		2203	4300	6503	SO:0001583	missense	65008			AB049474	CCDS3583.2	4q21.1	2012-09-13			ENSG00000169288	ENSG00000169288		"""Mitochondrial ribosomal proteins / large subunits"""	14275	protein-coding gene	gene with protein product		611821					Standard	NM_020236		Approved	BM022	uc003hku.2	Q9BYD6	OTTHUMG00000130200	ENST00000315567.8:c.106A>T	4.37:g.78792972A>T	ENSP00000315017:p.Ile36Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A6NG03|Q4W5B8|Q6IAG4|Q96BW3|Q9H793|Q9NRL5	Missense_Mutation	SNP	ENST00000315567.8	37	CCDS3583.2	.	.	.	.	.	.	.	.	.	.	A	8.495	0.862880	0.17178	.	.	ENSG00000169288	ENST00000315567;ENST00000538314	T	0.42131	0.98	5.41	-10.5	0.00291	Ribosomal protein L1, chordata (1);	1.145420	0.06390	N	0.716816	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.12156	0.007	T	0.30534	-0.9975	10	0.52906	T	0.07	-0.9135	6.4051	0.21660	0.2378:0.1051:0.5532:0.1039	.	36	Q9BYD6	RM01_HUMAN	F	36;14	ENSP00000315017:I36F	ENSP00000315017:I36F	I	+	1	0	MRPL1	79011996	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.849000	0.01672	-2.153000	0.00793	-0.977000	0.02584	ATC		0.308	MRPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252518.3		NM_020236	
MRPL51	51258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6602132	6602132	+	Missense_Mutation	SNP	G	G	C	rs11559083		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:6602132G>C	ENST00000229238.3	-	2	547	c.86C>G	c.(85-87)cCt>cGt	p.P29R	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	29					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.P29R(1)		kidney(2)|large_intestine(1)|lung(3)	6						GATCAATCTAGGCACACCTGG	0.517																																																	1	Substitution - Missense(1)	kidney(1)											77.0	81.0	80.0					12																	6602132		2203	4300	6503	SO:0001583	missense	51258			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.86C>G	12.37:g.6602132G>C	ENSP00000229238:p.Pro29Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q96Q57|Q9BQ36|Q9P0N7	Missense_Mutation	SNP	ENST00000229238.3	37	CCDS8547.1	.	.	.	.	.	.	.	.	.	.	G	12.19	1.862964	0.32884	.	.	ENSG00000111639	ENST00000229238	T	0.50001	0.76	4.96	4.96	0.65561	.	0.276343	0.42172	D	0.000756	T	0.32823	0.0842	N	0.19112	0.55	0.09310	N	0.999999	B	0.21821	0.061	B	0.18263	0.021	T	0.19321	-1.0309	10	0.39692	T	0.17	-11.7644	12.6508	0.56759	0.0:0.1666:0.8334:0.0	.	29	Q4U2R6	RM51_HUMAN	R	29	ENSP00000229238:P29R	ENSP00000229238:P29R	P	-	2	0	MRPL51	6472393	0.474000	0.25886	0.272000	0.24630	0.002000	0.02628	2.825000	0.48096	2.288000	0.76882	0.462000	0.41574	CCT		0.517	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1		NM_016497	
MRPL51	51258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6602137	6602137	+	Splice_Site	SNP	A	A	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:6602137A>C	ENST00000229238.3	-	2	542	c.81T>G	c.(79-81)ggT>ggG	p.G27G	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543164.1_5'UTR|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543703.1_Intron	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	27					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)	p.G27G(1)		kidney(2)|large_intestine(1)|lung(3)	6						ATCTAGGCACACCTGGGGATG	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	78.0	77.0					12																	6602137		2203	4300	6503	SO:0001630	splice_region_variant	51258			AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.80-1T>G	12.37:g.6602137A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q96Q57|Q9BQ36|Q9P0N7	Silent	SNP	ENST00000229238.3	37	CCDS8547.1																																																																																				0.512	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1		NM_016497	Silent
MSL2	55167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	135913893	135913893	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:135913893G>A	ENST00000309993.2	-	1	795	c.63C>T	c.(61-63)gaC>gaT	p.D21D	MSL2_ENST00000434835.2_5'Flank	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	21	Sufficient for interaction with MSL1.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)	MSL complex (GO:0072487)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D21D(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						GGTCTCCGGGGTCGTAGTTGA	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											184.0	196.0	192.0					3																	135913893		2203	4300	6503	SO:0001819	synonymous_variant	55167			AK001408	CCDS33861.1, CCDS46922.1	3q22.2	2008-10-29	2008-10-29	2008-10-29	ENSG00000174579	ENSG00000174579		"""RING-type (C3HC4) zinc fingers"""	25544	protein-coding gene	gene with protein product	"""male-specific lethal-2 homolog (Drosophila)"""	614802	"""ring finger protein 184"", ""male-specific lethal 2-like 1 (Drosophila)"""	RNF184, MSL2L1		16227571, 16543150	Standard	NM_018133		Approved	FLJ10546, KIAA1585, msl-2	uc003eqx.1	Q9HCI7	OTTHUMG00000159793	ENST00000309993.2:c.63C>T	3.37:g.135913893G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DYL4|G5E9I1|Q0D2P1|Q8NDB4|Q9NVS4	Silent	SNP	ENST00000309993.2	37	CCDS33861.1																																																																																				0.522	MSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357347.1		NM_018133	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9066807	9066807	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:9066807A>T	ENST00000397910.4	-	3	20842	c.20639T>A	c.(20638-20640)aTg>aAg	p.M6880K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6882	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.M6880K(2)|p.M2513K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAGGATGCATGGCTTCTAT	0.488																																																	3	Substitution - Missense(3)	kidney(3)											219.0	206.0	211.0					19																	9066807		2116	4241	6357	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20639T>A	19.37:g.9066807A>T	ENSP00000381008:p.Met6880Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.096	-0.185752	0.06340	.	.	ENSG00000181143	ENST00000397910	T	0.24723	1.84	1.55	0.507	0.16967	.	.	.	.	.	T	0.09905	0.0243	N	0.08118	0	.	.	.	B	0.30361	0.277	B	0.15484	0.013	T	0.19031	-1.0318	8	0.87932	D	0	.	3.1062	0.06342	0.7451:0.0:0.2549:0.0	.	6880	B5ME49	.	K	6880	ENSP00000381008:M6880K	ENSP00000381008:M6880K	M	-	2	0	MUC16	8927807	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.281000	0.02802	0.102000	0.17638	0.334000	0.21626	ATG		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MUM1L1	139221	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	105450813	105450813	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chrX:105450813G>T	ENST00000357175.2	+	4	2037	c.1388G>T	c.(1387-1389)aGt>aTt	p.S463I	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S463I|MUM1L1_ENST00000337685.2_Missense_Mutation_p.S463I	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	463						extracellular vesicular exosome (GO:0070062)		p.S463I(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAGGATTATAGTGAGAGTATT	0.363																																																	2	Substitution - Missense(2)	kidney(2)											87.0	78.0	80.0					X																	105450813		1846	4080	5926	SO:0001583	missense	139221			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1388G>T	X.37:g.105450813G>T	ENSP00000349699:p.Ser463Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Missense_Mutation	SNP	ENST00000357175.2	37	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	6.442	0.449627	0.12223	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	T;T;T	0.69175	-0.38;-0.38;-0.38	4.31	-1.92	0.07618	.	0.543053	0.17693	N	0.165211	T	0.54046	0.1834	L	0.43152	1.355	0.09310	N	1	P	0.39157	0.662	B	0.42422	0.387	T	0.48768	-0.9006	10	0.44086	T	0.13	-15.5289	5.1773	0.15141	0.4988:0.153:0.3483:0.0	.	463	Q5H9M0	MUML1_HUMAN	I	463	ENSP00000349699:S463I;ENSP00000338641:S463I;ENSP00000361632:S463I	ENSP00000338641:S463I	S	+	2	0	MUM1L1	105337469	0.000000	0.05858	0.006000	0.13384	0.464000	0.32679	0.314000	0.19432	-0.631000	0.05560	0.529000	0.55759	AGT		0.363	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1		NM_152423	
MYNN	55892	broad.mit.edu;ucsc.edu	37	3	169496987	169496987	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:169496987C>T	ENST00000349841.5	+	3	1361	c.698C>T	c.(697-699)tCa>tTa	p.S233L	MYNN_ENST00000392733.1_Missense_Mutation_p.S233L|RP11-362K14.5_ENST00000602342.1_RNA|MYNN_ENST00000356716.4_Missense_Mutation_p.S233L|MYNN_ENST00000544106.1_Missense_Mutation_p.S233L	NM_018657.4	NP_061127.1	Q9NPC7	MYNN_HUMAN	myoneurin	233					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S233L(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			AATGATAATTCAGAACTCGAG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											55.0	50.0	52.0					3																	169496987		2203	4300	6503	SO:0001583	missense	55892			AF148848	CCDS3207.1, CCDS54671.1	3q26.31	2013-01-09			ENSG00000085274	ENSG00000085274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	14955	protein-coding gene	gene with protein product		606042				10873615	Standard	NM_001185118		Approved	SBBIZ1, ZBTB31, ZNF902	uc010hwo.3	Q9NPC7		ENST00000349841.5:c.698C>T	3.37:g.169496987C>T	ENSP00000326240:p.Ser233Leu	Somatic		WXS	Illumina GAIIx	Phase_I	B2R6C9|Q6QHA6|Q6QHA7|Q6R3G1|Q6R3G2|Q6R4A0|Q7Z716|Q7Z717|Q86Z11|Q86Z12|Q9NS01|Q9UIW8	Missense_Mutation	SNP	ENST00000349841.5	37	CCDS3207.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001227	0.54254	.	.	ENSG00000085274	ENST00000356716;ENST00000349841;ENST00000392733;ENST00000544106	T;T;T;T	0.10005	3.09;3.09;2.95;2.92	5.2	5.2	0.72013	.	0.430841	0.22226	N	0.062894	T	0.15652	0.0377	N	0.19112	0.55	0.40663	D	0.982141	P;D	0.54601	0.634;0.967	B;P	0.60789	0.167;0.879	T	0.04976	-1.0914	10	0.33940	T	0.23	.	12.4509	0.55677	0.0:0.9225:0.0:0.0775	.	233;233	Q9NPC7-2;Q9NPC7	.;MYNN_HUMAN	L	233	ENSP00000349150:S233L;ENSP00000326240:S233L;ENSP00000376492:S233L;ENSP00000440637:S233L	ENSP00000326240:S233L	S	+	2	0	MYNN	170979681	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	3.279000	0.51670	2.579000	0.87056	0.585000	0.79938	TCA		0.388	MYNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467801.1		NM_018657	
NDUFS5	4725	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39494463	39494463	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:39494463G>T	ENST00000372969.3	+	2	154	c.67G>T	c.(67-69)Ggt>Tgt	p.G23C	NDUFS5_ENST00000372967.3_Missense_Mutation_p.G23C	NM_004552.2	NP_004543.1	O43920	NDUS5_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 5, 15kDa (NADH-coenzyme Q reductase)	23					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)	p.G23C(1)		endometrium(1)|kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.93e-18)			AATCCAGAGTGGTGAACAGCC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											104.0	97.0	99.0					1																	39494463		2203	4300	6503	SO:0001583	missense	4725			AF047434	CCDS434.1	1p34.2-p33	2011-07-04	2002-08-29		ENSG00000168653	ENSG00000168653		"""Mitochondrial respiratory chain complex / Complex I"""	7712	protein-coding gene	gene with protein product	"""complex I 51kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 5"""	603847	"""NADH dehydrogenase (ubiquinone) Fe-S protein 5 (15kD) (NADH-coenzyme Q reductase)"""			9763677, 9653160	Standard	NM_004552		Approved	CI-15k	uc001ccy.3	O43920	OTTHUMG00000007497	ENST00000372969.3:c.67G>T	1.37:g.39494463G>T	ENSP00000362060:p.Gly23Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000372969.3	37	CCDS434.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.048319	0.36181	.	.	ENSG00000168653	ENST00000372969;ENST00000372967	T;T	0.78924	-1.22;-1.22	5.82	5.82	0.92795	.	0.338213	0.34700	N	0.003757	T	0.67002	0.2847	L	0.29908	0.895	0.36398	D	0.862916	B	0.24576	0.106	B	0.14023	0.01	T	0.70135	-0.4955	10	0.66056	D	0.02	-2.6263	12.5244	0.56077	0.0:0.0:0.8335:0.1664	.	23	O43920	NDUS5_HUMAN	C	23	ENSP00000362060:G23C;ENSP00000362058:G23C	ENSP00000362058:G23C	G	+	1	0	NDUFS5	39267050	1.000000	0.71417	1.000000	0.80357	0.221000	0.24807	3.406000	0.52637	2.767000	0.95098	0.655000	0.94253	GGT		0.418	NDUFS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019688.1		NM_004552	
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117710301	117710301	+	Silent	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:117710301G>C	ENST00000338101.4	-	9	1732	c.1728C>G	c.(1726-1728)ctC>ctG	p.L576L	NOS1_ENST00000317775.6_Silent_p.L576L|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.L576L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CAATCTCTAGGAGCATGTTGG	0.612																																					Esophageal Squamous(162;1748 2599 51982 52956)												1	Substitution - coding silent(1)	kidney(1)											58.0	64.0	62.0					12																	117710301		2192	4298	6490	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1728C>G	12.37:g.117710301G>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			
OTUD3	23252	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	20224088	20224088	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:20224088G>T	ENST00000375120.3	+	4	540	c.539G>T	c.(538-540)gGa>gTa	p.G180V	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU deubiquitinase 3	180	His-loop.|OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313)		ubiquitin-specific protease activity (GO:0004843)	p.G180V(1)		breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TATCGGTATGGAGAGCACTAC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											119.0	117.0	118.0					1																	20224088		2037	4196	6233	SO:0001583	missense	23252			AB007928	CCDS41279.1	1p36.13	2014-02-24	2014-02-24		ENSG00000169914	ENSG00000169914		"""OTU domain containing"""	29038	protein-coding gene	gene with protein product		611758	"""OTU domain containing 3"""			9455484, 23827681	Standard	NM_015207		Approved	KIAA0459, DUBA4	uc001bcs.4	Q5T2D3	OTTHUMG00000002696	ENST00000375120.3:c.539G>T	1.37:g.20224088G>T	ENSP00000364261:p.Gly180Val	Somatic		WXS	Illumina HiSeq	Phase_I	O75047	Missense_Mutation	SNP	ENST00000375120.3	37	CCDS41279.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.828171	0.90955	.	.	ENSG00000169914	ENST00000375120	T	0.52754	0.65	5.78	5.78	0.91487	Ovarian tumour, otubain (1);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.87547	2.89	0.80722	D	1	D	0.60575	0.988	D	0.65684	0.937	T	0.76841	-0.2810	10	0.66056	D	0.02	.	18.5841	0.91182	0.0:0.0:1.0:0.0	.	180	Q5T2D3	OTUD3_HUMAN	V	180	ENSP00000364261:G180V	ENSP00000364261:G180V	G	+	2	0	OTUD3	20096675	1.000000	0.71417	0.242000	0.24170	0.970000	0.65996	8.924000	0.92827	2.730000	0.93505	0.655000	0.94253	GGA		0.512	OTUD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007655.1			
PARVA	55742	broad.mit.edu;hgsc.bcm.edu	37	11	12518075	12518075	+	Silent	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr11:12518075G>T	ENST00000550549.1	+	5	520	c.471G>T	c.(469-471)ctG>ctT	p.L157L	PARVA_ENST00000538608.1_Silent_p.L104L|PARVA_ENST00000334956.8_Silent_p.L197L|PARVA_ENST00000539723.1_Silent_p.L157L			Q9NVD7	PARVA_HUMAN	parvin, alpha	157	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L157L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		AGCAAAAACTGCAGACTGTCC	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											59.0	60.0	60.0					11																	12518075		1912	4130	6042	SO:0001819	synonymous_variant	55742			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.471G>T	11.37:g.12518075G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96C85|Q9HA48	Silent	SNP	ENST00000550549.1	37																																																																																					0.473	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_018222	
PBRM1	55193	broad.mit.edu;hgsc.bcm.edu	37	3	52651293	52651293	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:52651293A>C	ENST00000296302.7	-	14	1804	c.1803T>G	c.(1801-1803)aaT>aaG	p.N601K	PBRM1_ENST00000409767.1_Missense_Mutation_p.N616K|PBRM1_ENST00000409057.1_Missense_Mutation_p.N601K|PBRM1_ENST00000337303.4_Missense_Mutation_p.N601K|PBRM1_ENST00000356770.4_Missense_Mutation_p.N569K|PBRM1_ENST00000409114.3_Missense_Mutation_p.N616K|PBRM1_ENST00000394830.3_Missense_Mutation_p.N601K|PBRM1_ENST00000410007.1_Missense_Mutation_p.N601K			Q86U86	PB1_HUMAN	polybromo 1	601	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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.N601K(2)|p.N569K(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)		AGCCCTCCTCATTATAGTGCC	0.463			"""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)											79.0	72.0	75.0					3																	52651293		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.1803T>G	3.37:g.52651293A>C	ENSP00000296302:p.Asn601Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	A	19.40	3.819836	0.71028	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99;0.99	5.74	-3.99	0.04069	Bromodomain (5);	0.000000	0.85682	D	0.000000	T	0.73329	0.3573	H	0.98646	4.29	0.53005	D	0.99996	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;0.995;0.999;0.993;0.999;1.0;0.998;0.998	T	0.81558	-0.0878	10	0.87932	D	0	-22.411	14.2108	0.65764	0.6475:0.0:0.3525:0.0	.	601;601;601;601;616;616;601;569;601	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	K	569;601;601;601;601;601;616;616;601;560	ENSP00000349213:N569K;ENSP00000378307:N601K;ENSP00000296302:N601K;ENSP00000338302:N601K;ENSP00000386593:N601K;ENSP00000386529:N601K;ENSP00000386643:N616K;ENSP00000386601:N616K;ENSP00000387775:N601K;ENSP00000397662:N560K	ENSP00000296302:N601K	N	-	3	2	PBRM1	52626333	0.001000	0.12720	0.975000	0.42487	0.930000	0.56654	-1.160000	0.03147	-0.552000	0.06167	-1.215000	0.01618	AAT		0.463	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PCNT	5116	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	47841950	47841950	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr21:47841950G>C	ENST00000359568.5	+	32	7198	c.7091G>C	c.(7090-7092)gGt>gCt	p.G2364A	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2364					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.G2364A(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAAACTGCTGGTCCTGTGACC	0.597																																																	1	Substitution - Missense(1)	kidney(1)											73.0	77.0	75.0					21																	47841950		2203	4300	6503	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.7091G>C	21.37:g.47841950G>C	ENSP00000352572:p.Gly2364Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	G	6.425	0.446523	0.12223	.	.	ENSG00000160299	ENST00000359568	T	0.01430	4.9	4.19	1.26	0.21427	.	.	.	.	.	T	0.01092	0.0036	L	0.34521	1.04	0.09310	N	1	B;P	0.35844	0.426;0.524	B;B	0.35278	0.199;0.095	T	0.42832	-0.9428	9	0.10902	T	0.67	.	2.6683	0.05059	0.1103:0.183:0.5183:0.1884	.	2246;2364	O95613-2;O95613	.;PCNT_HUMAN	A	2364	ENSP00000352572:G2364A	ENSP00000352572:G2364A	G	+	2	0	PCNT	46666378	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	0.668000	0.25127	0.114000	0.18032	0.655000	0.94253	GGT		0.597	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031	
PIGV	55650	hgsc.bcm.edu;ucsc.edu	37	1	27121228	27121228	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:27121228delT	ENST00000374145.1	+	3	1385	c.703delT	c.(703-705)tttfs	p.F235fs	PIGV_ENST00000078527.4_Frame_Shift_Del_p.F235fs|PIGV_ENST00000449950.2_Intron	NM_001202554.1	NP_001189483.1	Q9NUD9	PIGV_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class V	235					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		GAGACAGCTCTTTAAGCTGAT	0.502																																																	0													122.0	126.0	125.0					1																	27121228		2203	4300	6503	SO:0001589	frameshift_variant	55650			AK000484	CCDS287.1	1p36.11	2013-02-26	2006-06-28		ENSG00000060642	ENSG00000060642		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	26031	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 2"", ""dol-P-Man dependent GPI mannosyltransferase"""	610274	"""phosphatidylinositol glycan, class V"""			15623507	Standard	NM_017837		Approved	FLJ20477	uc001bmz.3	Q9NUD9	OTTHUMG00000004005	ENST00000374145.1:c.703delT	1.37:g.27121228delT	ENSP00000363260:p.Phe235fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPL2|Q5JYG7|Q5JYG8|Q5JYG9|Q9NX26	Frame_Shift_Del	DEL	ENST00000374145.1	37	CCDS287.1																																																																																				0.502	PIGV-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011441.1		NM_017837	
PSMA3	5684	hgsc.bcm.edu	37	14	58724704	58724705	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:58724704_58724705insT	ENST00000216455.4	+	5	482_483	c.392_393insT	c.(391-396)ccttttfs	p.PF131fs	PSMA3_ENST00000557508.1_Frame_Shift_Ins_p.PF56fs|PSMA3_ENST00000412908.2_Frame_Shift_Ins_p.PF131fs	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	131					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						GCTGTTAGACCTTTTGGCTGCA	0.371																																																	0																																										SO:0001589	frameshift_variant	5684				CCDS9731.1, CCDS45113.1	14q23	2008-08-29			ENSG00000100567	ENSG00000100567		"""Proteasome (prosome, macropain) subunits"""	9532	protein-coding gene	gene with protein product		176843				2025653, 8811196	Standard	NM_002788		Approved	HC8	uc001xdj.2	P25788	OTTHUMG00000140319	ENST00000216455.4:c.396dupT	14.37:g.58724708_58724708dupT	ENSP00000216455:p.Pro131fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCK6|Q86U83|Q8N1D8|Q9BS70	Frame_Shift_Ins	INS	ENST00000216455.4	37	CCDS9731.1																																																																																				0.371	PSMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276923.1		NM_002788	
PLEKHH1	57475	broad.mit.edu;hgsc.bcm.edu	37	14	68038960	68038960	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:68038960C>A	ENST00000329153.5	+	11	1826	c.1694C>A	c.(1693-1695)tCa>tAa	p.S565*		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	565						cytoskeleton (GO:0005856)		p.S565*(1)|p.S604*(1)		endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CAGCGCACCTCATCCTACTCC	0.662																																																	2	Substitution - Nonsense(2)	kidney(2)											27.0	28.0	28.0					14																	68038960		2060	4203	6263	SO:0001587	stop_gained	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.1694C>A	14.37:g.68038960C>A	ENSP00000330278:p.Ser565*	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X6|Q6PJL4|Q6ZWC7	Nonsense_Mutation	SNP	ENST00000329153.5	37	CCDS45128.1	.	.	.	.	.	.	.	.	.	.	C	40	8.414238	0.98801	.	.	ENSG00000054690	ENST00000329153	.	.	.	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8555	0.78975	0.0:1.0:0.0:0.0	.	.	.	.	X	565	.	ENSP00000330278:S565X	S	+	2	0	PLEKHH1	67108713	1.000000	0.71417	0.953000	0.39169	0.993000	0.82548	5.269000	0.65542	2.387000	0.81309	0.555000	0.69702	TCA		0.662	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3		XM_031054	
RALGPS2	55103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	178852665	178852665	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:178852665G>T	ENST00000367635.3	+	11	1239	c.901G>T	c.(901-903)Gta>Tta	p.V301L	RALGPS2_ENST00000367634.2_Missense_Mutation_p.V301L|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	301					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.V301L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGAAGATTTAGTAGGTCAGTA	0.323																																																	1	Substitution - Missense(1)	kidney(1)											81.0	84.0	83.0					1																	178852665		2203	4300	6503	SO:0001583	missense	55103			AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.901G>T	1.37:g.178852665G>T	ENSP00000356607:p.Val301Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	CCDS1325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.13|16.13	3.035014|3.035014	0.54896|0.54896	.|.	.|.	ENSG00000116191|ENSG00000116191	ENST00000415888|ENST00000367635;ENST00000367634;ENST00000324778	.|T;T;T	.|0.38401	.|1.14;1.14;1.14	5.92|5.92	5.01|5.01	0.66863|0.66863	.|.	.|0.509696	.|0.21089	.|N	.|0.080352	T|T	0.26666|0.26666	0.0652|0.0652	L|L	0.33485|0.33485	1.01|1.01	0.41594|0.41594	D|D	0.988816|0.988816	.|B;B	.|0.09022	.|0.001;0.002	.|B;B	.|0.12156	.|0.007;0.004	T|T	0.06881|0.06881	-1.0802|-1.0802	5|10	.|0.07325	.|T	.|0.83	.|.	14.6133|14.6133	0.68531|0.68531	0.0702:0.0:0.9298:0.0|0.0702:0.0:0.9298:0.0	.|.	.|301;301	.|B7Z7B1;Q86X27	.|.;RGPS2_HUMAN	I|L	38|301;301;266	.|ENSP00000356607:V301L;ENSP00000356606:V301L;ENSP00000313613:V266L	.|ENSP00000313613:V266L	S|V	+|+	2|1	0|0	RALGPS2|RALGPS2	177119288|177119288	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	4.294000|4.294000	0.59043|0.59043	1.520000|1.520000	0.48965|0.48965	0.650000|0.650000	0.86243|0.86243	AGT|GTA		0.323	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2		NM_152663	
PTGS2	5743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186645102	186645102	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:186645102G>T	ENST00000367468.5	-	8	1321	c.1185C>A	c.(1183-1185)taC>taA	p.Y395*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	395					anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)	p.Y395*(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	TAGAGTTGTTGTAGATAAACT	0.388																																																	2	Substitution - Nonsense(2)	kidney(2)											148.0	144.0	146.0					1																	186645102		2203	4300	6503	SO:0001587	stop_gained	5743			D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.1185C>A	1.37:g.186645102G>T	ENSP00000356438:p.Tyr395*	Somatic		WXS	Illumina HiSeq	Phase_I	A8K802|Q16876	Nonsense_Mutation	SNP	ENST00000367468.5	37	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	G	38	6.733899	0.97796	.	.	ENSG00000073756	ENST00000367468	.	.	.	5.6	1.4	0.22301	.	0.049706	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-23.6652	11.0724	0.48010	0.2759:0.0:0.7241:0.0	.	.	.	.	X	395	.	ENSP00000356438:Y395X	Y	-	3	2	PTGS2	184911725	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.347000	0.65998	0.343000	0.23821	-0.157000	0.13467	TAC		0.388	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2		NM_000963	
RANBP3L	202151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36257042	36257042	+	Splice_Site	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr5:36257042C>T	ENST00000296604.3	-	10	1389		c.e10+1		RANBP3L_ENST00000502994.1_Splice_Site|RANBP3L_ENST00000515759.1_Missense_Mutation_p.V302I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like						intracellular transport (GO:0046907)			p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GATATACAGACCTTTAACACA	0.353																																																	1	Unknown(1)	kidney(1)											157.0	144.0	148.0					5																	36257042		2203	4299	6502	SO:0001630	splice_region_variant	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.903+1G>A	5.37:g.36257042C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z866|E9PGP9|Q96LK2	Splice_Site	SNP	ENST00000296604.3	37	CCDS3918.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.73|14.73	2.623205|2.623205	0.46840|0.46840	.|.	.|.	ENSG00000164188|ENSG00000164188	ENST00000296604;ENST00000502994|ENST00000515759	.|T	.|0.15139	.|2.45	4.94|4.94	4.94|4.94	0.65067|0.65067	.|.	.|.	.|.	.|.	.|.	.|T	.|0.09862	.|0.0242	.|.	.|.	.|.	0.28566|0.28566	N|N	0.910878|0.910878	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.05386	.|-1.0888	.|6	.|0.02654	.|T	.|1	.|.	17.4359|17.4359	0.87552|0.87552	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	.|I	-1|302	.|ENSP00000421149:V302I	.|ENSP00000421149:V302I	.|V	-|-	.|1	.|0	RANBP3L|RANBP3L	36292799|36292799	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.373000|0.373000	0.29922|0.29922	5.956000|5.956000	0.70315|0.70315	2.721000|2.721000	0.93114|0.93114	0.591000|0.591000	0.81541|0.81541	.|GTC		0.353	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2		NM_145000	Intron
RIMBP3	85376	hgsc.bcm.edu	37	22	20460113	20460115	+	In_Frame_Del	DEL	CCG	CCG	-	rs201820173		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	CCG	CCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr22:20460113_20460115delCCG	ENST00000426804.1	-	1	1671_1673	c.1187_1189delCGG	c.(1186-1191)gcggag>gag	p.A396del		NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	396				A -> E (in Ref. 2; BAB33336). {ECO:0000305}.						breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TGCTTGTTCTCCGCTTGCAGGGT	0.675																																																	0																																										SO:0001651	inframe_deletion	85376			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.1187_1189delCGG	22.37:g.20460113_20460115delCCG	ENSP00000391564:p.Ala396del	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYP7|Q9BY94|Q9UFQ5	In_Frame_Del	DEL	ENST00000426804.1	37	CCDS46665.1																																																																																				0.675	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318945.2		NM_015672	
SCN1A	6323	hgsc.bcm.edu;ucsc.edu	37	2	166848925	166848925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:166848925delA	ENST00000303395.4	-	26	4859	c.4860delT	c.(4858-4860)tttfs	p.F1620fs	SCN1A_ENST00000375405.3_Frame_Shift_Del_p.F1609fs|SCN1A_ENST00000409050.1_Frame_Shift_Del_p.F1592fs|SCN1A_ENST00000423058.2_Frame_Shift_Del_p.F1620fs|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000597623.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1620					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCTCGGCAAGAAACATACCTA	0.413																																																	0													62.0	64.0	63.0					2																	166848925		2203	4300	6503	SO:0001589	frameshift_variant	6323			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4860delT	2.37:g.166848925delA	ENSP00000303540:p.Phe1620fs	Somatic		WXS	Illumina HiSeq	Phase_I	E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Frame_Shift_Del	DEL	ENST00000303395.4	37	CCDS54413.1																																																																																				0.413	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1		NM_006920	
SEC14L2	23541	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	30805428	30805428	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr22:30805428T>A	ENST00000312932.9	+	7	793	c.533T>A	c.(532-534)tTt>tAt	p.F178Y	RP4-539M6.19_ENST00000439838.1_Missense_Mutation_p.F12Y|SEC14L2_ENST00000403484.1_Missense_Mutation_p.F104Y|SEC14L2_ENST00000402592.3_Missense_Mutation_p.F95Y|SEC14L2_ENST00000405717.3_Missense_Mutation_p.F178Y	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	178	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)	p.F178Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	CTCTGCATGTTTGAGGAAAAT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											170.0	164.0	166.0					22																	30805428		2203	4300	6503	SO:0001583	missense	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.533T>A	22.37:g.30805428T>A	ENSP00000316203:p.Phe178Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Missense_Mutation	SNP	ENST00000312932.9	37	CCDS13876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.97|13.97	2.394775|2.394775	0.42512|0.42512	.|.	.|.	ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000100003;ENSG00000249590|ENSG00000249590	ENST00000312932;ENST00000428195;ENST00000403484;ENST00000405717;ENST00000402592;ENST00000439838|ENST00000439023	T;T;T;T;T;T|.	0.77750|.	-1.12;-1.12;-1.12;-1.12;-1.12;-1.12|.	5.06|5.06	5.06|5.06	0.68205|0.68205	Cellular retinaldehyde-binding/triple function, C-terminal (5);|.	0.055790|.	0.85682|.	D|.	0.000000|.	T|T	0.38558|0.38558	0.1045|0.1045	N|N	0.10733|0.10733	0.035|0.035	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B;B|.	0.15141|.	0.012;0.002;0.001;0.008;0.0;0.001;0.002|.	B;B;B;B;B;B;B|.	0.22601|.	0.023;0.023;0.04;0.04;0.027;0.012;0.023|.	T|T	0.30592|0.30592	-0.9973|-0.9973	10|5	0.06757|.	T|.	0.87|.	-12.0637|-12.0637	14.6281|14.6281	0.68638|0.68638	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	95;124;124;178;104;178;178|.	F5H3U4;C9JZI9;B7Z3Z8;B2RAW8;B3KRD8;O76054;O76054-4|.	.;.;.;.;.;S14L2_HUMAN;.|.	Y|M	178;124;104;178;95;12|6	ENSP00000316203:F178Y;ENSP00000387781:F124Y;ENSP00000383993:F104Y;ENSP00000385186:F178Y;ENSP00000383882:F95Y;ENSP00000415178:F12Y|.	ENSP00000415178:F12Y|.	F|L	+|+	2|1	0|2	RP4-539M6.19;SEC14L2|RP4-539M6.19	29135428|29135428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.465000|7.465000	0.80898|0.80898	2.131000|2.131000	0.65755|0.65755	0.533000|0.533000	0.62120|0.62120	TTT|TTG		0.448	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321018.4		NM_012429	
SEMA4F	10505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74907017	74907017	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:74907017G>T	ENST00000357877.2	+	14	2143	c.1994G>T	c.(1993-1995)gGc>gTc	p.G665V	SEMA4F_ENST00000339773.5_Missense_Mutation_p.G510V|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	665					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|negative regulation of axon extension (GO:0030517)|nervous system development (GO:0007399)|retinal ganglion cell axon guidance (GO:0031290)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)	p.G665V(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GGACTGGCTGGCTTCTTCTTG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											38.0	45.0	43.0					2																	74907017		2203	4300	6503	SO:0001583	missense	10505			AF038652	CCDS1955.1, CCDS62942.1, CCDS74529.1	2p13.1	2008-05-21			ENSG00000135622	ENSG00000135622		"""Semaphorins"""	10734	protein-coding gene	gene with protein product	"""m-Sema M"""	603706		SEMAM		10051670	Standard	NM_004263		Approved	SEMAW	uc002sna.2	O95754	OTTHUMG00000129952	ENST00000357877.2:c.1994G>T	2.37:g.74907017G>T	ENSP00000350547:p.Gly665Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q542Y7|Q9NS35	Missense_Mutation	SNP	ENST00000357877.2	37	CCDS1955.1	.	.	.	.	.	.	.	.	.	.	G	5.959	0.361003	0.11296	.	.	ENSG00000135622	ENST00000357877;ENST00000339773	T;T	0.19806	2.3;2.12	5.38	5.38	0.77491	.	6.336750	0.00465	N	0.000113	T	0.30070	0.0753	N	0.08118	0	0.58432	D	0.999997	D;D	0.65815	0.995;0.991	D;P	0.66497	0.944;0.831	T	0.35025	-0.9805	10	0.16896	T	0.51	.	14.6234	0.68602	0.0:0.0:1.0:0.0	.	510;665	O95754-2;O95754	.;SEM4F_HUMAN	V	665;510	ENSP00000350547:G665V;ENSP00000342675:G510V	ENSP00000342675:G510V	G	+	2	0	SEMA4F	74760525	1.000000	0.71417	0.862000	0.33874	0.097000	0.18754	2.667000	0.46808	2.526000	0.85167	0.467000	0.42956	GGC		0.622	SEMA4F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252214.2		NM_004263	
SEMG1	6406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	43837138	43837138	+	Silent	SNP	T	T	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr20:43837138T>C	ENST00000372781.3	+	2	1257	c.1200T>C	c.(1198-1200)ggT>ggC	p.G400G	SEMG1_ENST00000244069.6_Silent_p.G340G	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	400	Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.G400G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CATGGCATGGTGAAAATGCAA	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	66.0	69.0					20																	43837138		2203	4300	6503	SO:0001819	synonymous_variant	6406				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1200T>C	20.37:g.43837138T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Silent	SNP	ENST00000372781.3	37	CCDS13345.1																																																																																				0.438	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3		NM_003007	
SKIL	6498	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	170078221	170078221	+	Silent	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:170078221G>A	ENST00000458537.3	+	1	811	c.102G>A	c.(100-102)acG>acA	p.T34T	SKIL_ENST00000426052.2_Silent_p.T14T|SKIL_ENST00000259119.4_Silent_p.T34T|SKIL_ENST00000413427.2_Silent_p.T34T	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like proto-oncogene	34					blastocyst formation (GO:0001825)|cell cycle arrest (GO:0007050)|gene expression (GO:0010467)|lens fiber cell differentiation (GO:0070306)|lymphocyte homeostasis (GO:0002260)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of axonogenesis (GO:0050772)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|protein heterotrimerization (GO:0070208)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|response to antibiotic (GO:0046677)|response to cytokine (GO:0034097)|response to growth factor (GO:0070848)|skeletal muscle tissue development (GO:0007519)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.T34T(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AAATGATAACGGACATTCATG	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											93.0	87.0	89.0					3																	170078221		2203	4300	6503	SO:0001819	synonymous_variant	6498			X15217	CCDS33890.1, CCDS46953.1, CCDS46954.1	3q26	2014-06-25	2014-06-25		ENSG00000136603	ENSG00000136603		"""SKI transcriptional corepressors"""	10897	protein-coding gene	gene with protein product		165340	"""SKI-like oncogene"""			2762147	Standard	NM_005414		Approved	SNO, SnoN, SnoA	uc003fgw.3	P12757	OTTHUMG00000158831	ENST00000458537.3:c.102G>A	3.37:g.170078221G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NGT1|B4DT50|O00464|P12756|Q07501	Silent	SNP	ENST00000458537.3	37	CCDS33890.1																																																																																				0.443	SKIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352351.4		NM_005414	
SLC27A6	28965	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	128351731	128351731	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr5:128351731G>T	ENST00000262462.4	+	5	2133	c.1123G>T	c.(1123-1125)Ggg>Tgg	p.G375W	SLC27A6_ENST00000506176.1_Missense_Mutation_p.G375W|SLC27A6_ENST00000395266.1_Missense_Mutation_p.G375W			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	375					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.G375W(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAACTACACTGGGAGAATTGG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											162.0	164.0	163.0					5																	128351731		2203	4300	6503	SO:0001583	missense	28965			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1123G>T	5.37:g.128351731G>T	ENSP00000262462:p.Gly375Trp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473256	0.63737	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.49720	0.77;0.77;0.77	3.77	2.88	0.33553	AMP-dependent synthetase/ligase (1);	0.112577	0.64402	D	0.000011	T	0.75376	0.3841	H	0.94925	3.6	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.83142	-0.0108	9	.	.	.	-9.3072	13.5762	0.61875	0.0:0.0:0.8429:0.1571	.	375	Q9Y2P4	S27A6_HUMAN	W	375	ENSP00000262462:G375W;ENSP00000378684:G375W;ENSP00000421024:G375W	.	G	+	1	0	SLC27A6	128379630	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.060000	0.76692	1.158000	0.42547	0.461000	0.40582	GGG		0.363	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1		NM_014031	
SLC9A5	6553	broad.mit.edu;hgsc.bcm.edu	37	16	67290903	67290903	+	Missense_Mutation	SNP	C	C	T	rs35182421		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr16:67290903C>T	ENST00000299798.11	+	7	1287	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	408					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.R408W(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TGGGGGCCTGCGGGGGGCTGT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											81.0	84.0	83.0					16																	67290903		1985	4171	6156	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1222C>T	16.37:g.67290903C>T	ENSP00000299798:p.Arg408Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY7|Q9Y626	Missense_Mutation	SNP	ENST00000299798.11	37	CCDS42178.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001265	0.74818	.	.	ENSG00000135740	ENST00000299798	T	0.24350	1.86	5.63	4.67	0.58626	Cation/H+ exchanger (1);	0.119407	0.64402	D	0.000019	T	0.65396	0.2687	H	0.96805	3.885	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79193	-0.1904	10	0.87932	D	0	.	15.2466	0.73509	0.1416:0.8584:0.0:0.0	.	408	Q14940	SL9A5_HUMAN	W	408	ENSP00000299798:R408W	ENSP00000299798:R408W	R	+	1	2	SLC9A5	65848404	1.000000	0.71417	0.999000	0.59377	0.952000	0.60782	4.800000	0.62524	1.491000	0.48482	0.655000	0.94253	CGG		0.562	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			
SMARCA4	6597	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	11144146	11144146	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:11144146C>T	ENST00000429416.3	+	27	4008	c.3727C>T	c.(3727-3729)Cgg>Tgg	p.R1243W	SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1243W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1243W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1243W|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1243W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1243W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1243	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.R1243W(3)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAGCCATGAGCGGCGCGCCTT	0.637			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	4	Substitution - Missense(3)|Unknown(1)	kidney(2)|lung(1)|central_nervous_system(1)											86.0	86.0	86.0					19																	11144146		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.3727C>T	19.37:g.11144146C>T	ENSP00000395654:p.Arg1243Trp	Somatic		WXS	Illumina HiSeq	Phase_I	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.79|18.79	3.698723|3.698723	0.68501|0.68501	.|.	.|.	ENSG00000127616|ENSG00000127616	ENST00000538456|ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T|D;D;D;D;D;D;D	0.76060|0.95103	-0.99|-2.35;-2.34;-2.35;-3.61;-3.61;-3.61;-3.61	4.74|4.74	-4.88|-4.88	0.03113|0.03113	.|Helicase, C-terminal (1);	.|0.066410	.|0.64402	.|D	.|0.000011	D|D	0.96876|0.96876	0.8980|0.8980	M|M	0.89287|0.89287	3.02|3.02	0.47994|0.47994	D|D	0.999562|0.999562	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;1.0;1.0	.|D;D;D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.979;0.995;0.991;0.988	D|D	0.95985|0.95985	0.8981|0.8981	6|10	.|0.87932	.|D	.|0	-32.479|-32.479	16.3987|16.3987	0.83632|0.83632	0.6595:0.3405:0.0:0.0|0.6595:0.3405:0.0:0.0	.|.	.|1243;1243;1243;1243;1243;463;1243	.|B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;P51532	.|.;.;.;.;.;.;SMCA4_HUMAN	V|W	12|1243;1243;1307;1243;1243;1243;1243;1243	ENSP00000443848:A12V|ENSP00000395654:R1243W;ENSP00000350720:R1243W;ENSP00000343896:R1243W;ENSP00000445036:R1243W;ENSP00000392837:R1243W;ENSP00000397783:R1243W;ENSP00000414727:R1243W	.|ENSP00000343896:R1243W	A|R	+|+	2|1	0|2	SMARCA4|SMARCA4	11005146|11005146	0.951000|0.951000	0.32395|0.32395	0.989000|0.989000	0.46669|0.46669	0.990000|0.990000	0.78478|0.78478	0.134000|0.134000	0.15932|0.15932	-0.414000|-0.414000	0.07495|0.07495	0.558000|0.558000	0.71614|0.71614	GCG|CGG		0.637	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072	
SPECC1	92521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	20150580	20150580	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:20150580T>A	ENST00000261503.5	+	9	2597	c.2546T>A	c.(2545-2547)cTa>cAa	p.L849Q	SPECC1_ENST00000536879.1_Missense_Mutation_p.L189Q|SPECC1_ENST00000395530.2_Missense_Mutation_p.L768Q|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.L849Q	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	849					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.L849Q(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGAAGTCCCCTAAGTGGGATA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											51.0	53.0	52.0					17																	20150580		2203	4300	6503	SO:0001583	missense	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.2546T>A	17.37:g.20150580T>A	ENSP00000261503:p.Leu849Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478831	0.63849	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	T;T	0.55052	0.54;0.54	4.28	4.28	0.50868	.	0.000000	0.64402	D	0.000001	T	0.68247	0.2980	M	0.70275	2.135	0.51233	D	0.999914	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.70777	-0.4780	10	0.62326	D	0.03	-12.6433	10.039	0.42146	0.0:0.0:0.0:1.0	.	849;768;849	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	Q	849;849;189;768	ENSP00000261503:L849Q;ENSP00000438294:L189Q	ENSP00000261503:L849Q	L	+	2	0	SPECC1	20091172	0.975000	0.34042	0.680000	0.29994	0.961000	0.63080	4.096000	0.57734	1.929000	0.55896	0.477000	0.44152	CTA		0.468	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		NM_152904	
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113168633	113168633	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:113168633delC	ENST00000401783.2	-	38	9583	c.9247delG	c.(9247-9249)gaafs	p.E3083fs	SVEP1_ENST00000297826.5_Frame_Shift_Del_p.E1009fs|SVEP1_ENST00000374469.1_Frame_Shift_Del_p.E3060fs	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3083	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCACATTTTCCTTCCAAGAG	0.473																																																	0													151.0	151.0	151.0					9																	113168633		1965	4165	6130	SO:0001589	frameshift_variant	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9247delG	9.37:g.113168633delC	ENSP00000384917:p.Glu3083fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Frame_Shift_Del	DEL	ENST00000401783.2	37	CCDS48004.1																																																																																				0.473	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
TAS1R3	83756	broad.mit.edu;hgsc.bcm.edu	37	1	1268364	1268364	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:1268364A>G	ENST00000339381.5	+	4	1371	c.1339A>G	c.(1339-1341)Agc>Ggc	p.S447G		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	447					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.S447G(1)		kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		GTTCGACAGCAGCGGAAACGT	0.667																																																	1	Substitution - Missense(1)	kidney(1)											47.0	47.0	47.0					1																	1268364		2200	4296	6496	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1339A>G	1.37:g.1268364A>G	ENSP00000344411:p.Ser447Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TA49|Q8NGW9	Missense_Mutation	SNP	ENST00000339381.5	37	CCDS30556.1	.	.	.	.	.	.	.	.	.	.	A	11.48	1.650532	0.29336	.	.	ENSG00000169962	ENST00000339381	D	0.83419	-1.72	4.86	-2.51	0.06365	Extracellular ligand-binding receptor (1);	4.107710	0.00397	N	0.000040	T	0.73118	0.3546	L	0.45137	1.4	0.09310	N	1	P	0.39424	0.673	B	0.37550	0.253	T	0.59402	-0.7461	10	0.31617	T	0.26	.	1.084	0.01648	0.3028:0.334:0.145:0.2182	.	447	Q7RTX0	TS1R3_HUMAN	G	447	ENSP00000344411:S447G	ENSP00000344411:S447G	S	+	1	0	TAS1R3	1258227	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.818000	0.04467	-0.469000	0.06911	0.374000	0.22700	AGC		0.667	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1			
TMEM140	55281	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	134849219	134849219	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:134849219G>A	ENST00000275767.3	+	2	249	c.26G>A	c.(25-27)cGc>cAc	p.R9H	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	9						integral component of membrane (GO:0016021)		p.R9H(1)		kidney(1)|large_intestine(2)|lung(2)	5						CCTCGGTGGCGCGACCAGCTG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											123.0	108.0	113.0					7																	134849219		2203	4300	6503	SO:0001583	missense	55281			AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.26G>A	7.37:g.134849219G>A	ENSP00000275767:p.Arg9His	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.576179	0.45902	.	.	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.19105	2.17	5.45	1.96	0.26148	.	1.487380	0.03866	N	0.274914	T	0.09512	0.0234	N	0.08118	0	0.09310	N	1	P	0.46327	0.876	B	0.35550	0.205	T	0.16630	-1.0396	10	0.27082	T	0.32	-0.5272	4.9781	0.14151	0.2344:0.1626:0.603:0.0	.	9	Q9NV12	TM140_HUMAN	H	9	ENSP00000275767:R9H	ENSP00000275767:R9H	R	+	2	0	TMEM140	134499759	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.395000	0.20850	0.376000	0.24707	0.462000	0.41574	CGC		0.592	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2		NM_018295	
TMEM213	155006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	138487680	138487680	+	Missense_Mutation	SNP	C	C	T	rs375761457		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:138487680C>T	ENST00000442682.2	+	3	343	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	TMEM213_ENST00000458494.1_Missense_Mutation_p.R40C|TMEM213_ENST00000397602.3_Missense_Mutation_p.R63C|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000422794.2_Missense_Mutation_p.R114C	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	64						integral component of membrane (GO:0016021)		p.R64C(2)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						CCGGTGCTGCCGCACAGGAGT	0.622																																																	2	Substitution - Missense(2)	kidney(2)						C	CYS/ARG	1,4225		0,1,2112	36.0	41.0	40.0		190	3.9	0.9	7		40	0,8442		0,0,4221	no	missense	TMEM213	NM_001085429.1	180	0,1,6333	TT,TC,CC		0.0,0.0237,0.0079	probably-damaging	64/108	138487680	1,12667	2113	4221	6334	SO:0001583	missense	155006				CCDS47722.1	7q34	2008-08-08			ENSG00000214128	ENSG00000214128			27220	protein-coding gene	gene with protein product							Standard	NM_001085429		Approved		uc010lna.3	A2RRL7	OTTHUMG00000157182	ENST00000442682.2:c.190C>T	7.37:g.138487680C>T	ENSP00000390407:p.Arg64Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1R3|C9JH49|C9JX41|C9K0P0	Missense_Mutation	SNP	ENST00000442682.2	37	CCDS47722.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552121	0.65311	2.37E-4	0.0	ENSG00000214128	ENST00000422794;ENST00000397602;ENST00000442682;ENST00000458494	.	.	.	5.9	3.87	0.44632	.	0.665889	0.11256	U	0.583087	T	0.38321	0.1036	N	0.14661	0.345	0.29854	N	0.828197	D;D	0.69078	0.997;0.997	P;P	0.50708	0.648;0.648	T	0.39781	-0.9597	9	0.66056	D	0.02	-15.3016	14.1907	0.65637	0.2829:0.7171:0.0:0.0	.	63;64	A2RRL7-3;A2RRL7	.;TM213_HUMAN	C	114;63;64;40	.	ENSP00000380727:R63C	R	+	1	0	TMEM213	138138220	0.941000	0.31946	0.879000	0.34478	0.458000	0.32498	2.718000	0.47236	1.452000	0.47756	0.650000	0.86243	CGC		0.622	TMEM213-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347800.2		NM_001085429	
TSSK4	283629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24675911	24675911	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr14:24675911G>T	ENST00000287913.6	+	2	590	c.422G>T	c.(421-423)aGc>aTc	p.S141I	TSSK4_ENST00000339917.5_Missense_Mutation_p.S141I|TM9SF1_ENST00000530611.1_Intron|TM9SF1_ENST00000556387.1_Intron|TSSK4_ENST00000556621.1_Missense_Mutation_p.S65I|AL136419.6_ENST00000565988.1_RNA|TSSK4_ENST00000428351.2_Intron			Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|positive regulation of CREB transcription factor activity (GO:0032793)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.S141I(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TACCTGCACAGCAAGAGCATC	0.592																																																	2	Substitution - Missense(2)	kidney(2)											56.0	51.0	52.0					14																	24675911		2203	4300	6503	SO:0001583	missense	283629			AF542390	CCDS9618.1, CCDS53890.1	14q11.2	2006-03-31	2005-03-10	2005-03-12	ENSG00000139908	ENSG00000139908			19825	protein-coding gene	gene with protein product	"""chromosome 14 open reading frame 20"""	610711	"""serine/threonine kinase 22E"""	C14orf20, STK22E			Standard	NM_174944		Approved		uc001wnh.3	Q6SA08	OTTHUMG00000029323	ENST00000287913.6:c.422G>T	14.37:g.24675911G>T	ENSP00000287913:p.Ser141Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TA60|Q6ZNM2	Missense_Mutation	SNP	ENST00000287913.6	37	CCDS9618.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.79|16.79	3.219516|3.219516	0.58560|0.58560	.|.	.|.	ENSG00000139908|ENSG00000139908	ENST00000555092|ENST00000339917;ENST00000556621;ENST00000287913	.|T;T;T	.|0.29397	.|1.57;1.57;1.57	5.07|5.07	5.07|5.07	0.68467|0.68467	.|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	.|0.64402	.|D	.|0.000009	T|T	0.49541|0.49541	0.1563|0.1563	L|L	0.61387|0.61387	1.9|1.9	0.80722|0.80722	D|D	1|1	.|D;D	.|0.58620	.|0.979;0.983	.|P;P	.|0.60789	.|0.808;0.879	T|T	0.47142|0.47142	-0.9140|-0.9140	5|10	.|0.56958	.|D	.|0.05	.|.	15.467|15.467	0.75409|0.75409	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|141;141	.|Q6SA08-2;Q6SA08	.|.;TSSK4_HUMAN	H|I	135|141;65;141	.|ENSP00000339179:S141I;ENSP00000452054:S65I;ENSP00000287913:S141I	.|ENSP00000287913:S141I	Q|S	+|+	3|2	2|0	TSSK4|TSSK4	23745751|23745751	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	2.409000|2.409000	0.44583|0.44583	2.639000|2.639000	0.89480|0.89480	0.462000|0.462000	0.41574|0.41574	CAG|AGC		0.592	TSSK4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000073139.3		NM_174944	
TTN	7273	broad.mit.edu;hgsc.bcm.edu	37	2	179572409	179572409	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:179572409C>G	ENST00000591111.1	-	98	28158	c.27934G>C	c.(27934-27936)Gaa>Caa	p.E9312Q	TTN_ENST00000589042.1_Missense_Mutation_p.E9629Q|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8385Q|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13428	Ig-like 76.				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.E8385K(1)|p.E8385Q(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)			GGCTTTATTTCCCTGCCAGCC	0.498																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											94.0	88.0	90.0					2																	179572409		1962	4148	6110	SO:0001583	missense	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.27934G>C	2.37:g.179572409C>G	ENSP00000465570:p.Glu9312Gln	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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	15.35	2.808289	0.50421	.	.	ENSG00000155657	ENST00000342992	T	0.67865	-0.29	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.79070	0.4384	L	0.51914	1.62	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.80219	-0.1473	9	0.87932	D	0	.	19.5438	0.95283	0.0:1.0:0.0:0.0	.	9312	Q8WZ42	TITIN_HUMAN	Q	8385	ENSP00000343764:E8385Q	ENSP00000343764:E8385Q	E	-	1	0	TTN	179280654	1.000000	0.71417	0.964000	0.40570	0.527000	0.34593	7.744000	0.85034	2.692000	0.91855	0.655000	0.94253	GAA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TUSC1	286319	broad.mit.edu;hgsc.bcm.edu	37	9	25677810	25677810	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:25677810C>T	ENST00000358022.3	-	1	1046	c.510G>A	c.(508-510)cgG>cgA	p.R170R		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	170								p.R170R(1)		kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		GCAGCAGGGCCCGGCGGTACA	0.711																																					Pancreas(19;648 672 25630 30820 31331)												1	Substitution - coding silent(1)	kidney(1)											8.0	10.0	9.0					9																	25677810		2138	4194	6332	SO:0001819	synonymous_variant	286319			AY168647	CCDS34999.1	9p21.2	2014-05-22			ENSG00000198680	ENSG00000198680			31010	protein-coding gene	gene with protein product		610529				15208665	Standard	NM_001004125		Approved	TSG-9	uc003zpx.3	Q2TAM9	OTTHUMG00000159591	ENST00000358022.3:c.510G>A	9.37:g.25677810C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ78|Q67GI3|Q86SS1|Q8TAH8	Silent	SNP	ENST00000358022.3	37	CCDS34999.1																																																																																				0.711	TUSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356351.1		NM_001004125	
UBR4	23352	broad.mit.edu;hgsc.bcm.edu	37	1	19480421	19480421	+	Silent	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:19480421G>T	ENST00000375254.3	-	45	6498	c.6471C>A	c.(6469-6471)ggC>ggA	p.G2157G	UBR4_ENST00000375217.2_Silent_p.G2157G|UBR4_ENST00000375226.2_Silent_p.G2157G|UBR4_ENST00000375267.2_Silent_p.G2157G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2157					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G2157G(2)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AAGTCTTACTGCCACCATTGG	0.483																																																	2	Substitution - coding silent(2)	kidney(1)|endometrium(1)											76.0	70.0	72.0					1																	19480421		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6471C>A	1.37:g.19480421G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.483	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	
UTP6	55813	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	30213014	30213014	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:30213014C>G	ENST00000261708.4	-	9	825	c.688G>C	c.(688-690)Gta>Cta	p.V230L	CTC-542B22.2_ENST00000583236.1_lincRNA|UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	230					rRNA processing (GO:0006364)	nucleolus (GO:0005730)		p.V230L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				ATTATGCTTACAGAATTTTTG	0.313																																																	1	Substitution - Missense(1)	kidney(1)											84.0	87.0	86.0					17																	30213014		2202	4300	6502	SO:0001583	missense	55813			AF116631	CCDS11269.1	17q11.2	2010-06-24	2006-05-16	2006-05-16	ENSG00000108651	ENSG00000108651			18279	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated antigen 66"""		"""chromosome 17 open reading frame 40"""	C17orf40		10843809, 16138909	Standard	NM_018428		Approved	HCA66	uc002hgr.3	Q9NYH9	OTTHUMG00000132815	ENST00000261708.4:c.688G>C	17.37:g.30213014C>G	ENSP00000261708:p.Val230Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IX96|Q96BL2|Q9NQ91	Missense_Mutation	SNP	ENST00000261708.4	37	CCDS11269.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.063800	0.36373	.	.	ENSG00000108651	ENST00000261708	T	0.29397	1.57	5.74	-2.5	0.06384	.	0.682462	0.15372	N	0.265766	T	0.20210	0.0486	L	0.45051	1.395	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.16748	-1.0392	10	0.30078	T	0.28	-1.846	7.2168	0.25965	0.0:0.436:0.1109:0.4532	.	230;230;230	B4DSL9;B3KQ21;Q9NYH9	.;.;UTP6_HUMAN	L	230	ENSP00000261708:V230L	ENSP00000261708:V230L	V	-	1	0	UTP6	27237127	0.000000	0.05858	0.051000	0.19133	0.995000	0.86356	-0.824000	0.04438	-0.700000	0.05070	0.551000	0.68910	GTA		0.313	UTP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256265.2		NM_018428	
VHL	7428	broad.mit.edu;ucsc.edu	37	3	10183763	10183763	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr3:10183763A>G	ENST00000256474.2	+	1	1072	c.232A>G	c.(232-234)Aat>Gat	p.N78D	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.N78D	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	78			N -> H (in VHLD; type I). {ECO:0000269|PubMed:8956040}.|N -> S (in VHLD; type I; common mutation; dbSNP:rs5030804). {ECO:0000269|PubMed:8956040}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N78D(3)|p.F76fs*80(2)|p.F76fs*81(2)|p.N78Y(2)|p.N78H(2)|p.S72_V87>L(1)|p.C77_N78>Y(1)|p.R60fs*35(1)|p.V74fs*51(1)|p.C77fs*53(1)|p.V74fs*77(1)|p.N78fs*54(1)|p.C77_R79del(1)|p.N78fs*53(1)|p.C77*(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CATCTTCTGCAATCGCAGTCC	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	21	Deletion - Frameshift(8)|Substitution - Missense(7)|Complex - frameshift(2)|Complex - deletion inframe(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(19)|soft_tissue(2)	GRCh37	CM941365	VHL	M							12.0	15.0	14.0					3																	10183763		2175	4240	6415	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.232A>G	3.37:g.10183763A>G	ENSP00000256474:p.Asn78Asp	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	35	5.555516	0.96514	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99960	-9.15;-9.15	5.43	5.43	0.79202	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.043720	0.85682	D	0.000000	D	0.99951	0.9979	M	0.84773	2.715	0.42535	D	0.993053	D;D	0.65815	0.994;0.995	D;P	0.63703	0.917;0.866	D	0.94627	0.7818	10	0.87932	D	0	-4.0134	13.5016	0.61459	1.0:0.0:0.0:0.0	.	78;78	P40337-2;P40337	.;VHL_HUMAN	D	78	ENSP00000256474:N78D;ENSP00000344757:N78D	ENSP00000256474:N78D	N	+	1	0	VHL	10158763	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.728000	0.68531	2.069000	0.61940	0.450000	0.29827	AAT		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
XIST	7503	broad.mit.edu;hgsc.bcm.edu	37	X	73063111	73063111	+	lincRNA	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chrX:73063111A>G	ENST00000429829.1	-	0	9477					NR_001564.2				X inactive specific transcript (non-protein coding)																		TCACATTAACAGTACAAGGGG	0.428																																																	0													150.0	142.0	145.0					X																	73063111		876	1991	2867			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063111A>G		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000429829.1	37																																																																																					0.428	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1		NR_001564	
ZNF326	284695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	90475839	90475839	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr1:90475839T>G	ENST00000340281.4	+	6	951	c.808T>G	c.(808-810)Tca>Gca	p.S270A	ZNF326_ENST00000455342.2_Missense_Mutation_p.S64A|ZNF326_ENST00000370447.3_Missense_Mutation_p.S181A	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	270					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)	p.S270A(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CCTCAGCAAATCACCCAGTAA	0.303																																																	1	Substitution - Missense(1)	kidney(1)											90.0	91.0	90.0					1																	90475839		2203	4300	6503	SO:0001583	missense	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.808T>G	1.37:g.90475839T>G	ENSP00000340796:p.Ser270Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	CCDS727.1	.	.	.	.	.	.	.	.	.	.	T	10.98	1.503133	0.26949	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.14516	2.5;2.5;2.5	5.83	4.66	0.58398	.	0.884074	0.09804	N	0.753678	T	0.03783	0.0107	N	0.14661	0.345	0.36751	D	0.882754	P;B	0.37441	0.595;0.451	B;B	0.34931	0.192;0.137	T	0.38156	-0.9674	10	0.35671	T	0.21	-3.8831	11.6443	0.51253	0.1325:0.0:0.0:0.8675	.	270;270	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	A	270;270;181;64	ENSP00000340796:S270A;ENSP00000359476:S181A;ENSP00000403470:S64A	ENSP00000340796:S270A	S	+	1	0	ZNF326	90248427	1.000000	0.71417	1.000000	0.80357	0.725000	0.41563	1.769000	0.38522	2.216000	0.71823	0.472000	0.43445	TCA		0.303	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2		NM_181781	
ZNF572	137209	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125989480	125989480	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:125989480G>A	ENST00000319286.5	+	3	1124	c.970G>A	c.(970-972)Gga>Aga	p.G324R		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G324R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AATACATACAGGAGAAAAGCC	0.388										HNSCC(60;0.17)																																							1	Substitution - Missense(1)	kidney(1)											51.0	54.0	53.0					8																	125989480		2203	4299	6502	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.970G>A	8.37:g.125989480G>A	ENSP00000319305:p.Gly324Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486430	0.63962	.	.	ENSG00000180938	ENST00000319286	T	0.26223	1.75	4.85	3.97	0.46021	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47852	D	0.000202	T	0.43077	0.1231	M	0.65498	2.005	0.34955	D	0.751625	P	0.52842	0.956	P	0.61003	0.882	T	0.58137	-0.7689	10	0.59425	D	0.04	-14.7617	10.5679	0.45184	0.0938:0.0:0.9062:0.0	.	324	Q7Z3I7	ZN572_HUMAN	R	324	ENSP00000319305:G324R	ENSP00000319305:G324R	G	+	1	0	ZNF572	126058661	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	3.876000	0.56115	1.270000	0.44297	0.655000	0.94253	GGA		0.388	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1		NM_152412	
ZNF574	64763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	42582777	42582777	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:42582777G>C	ENST00000600245.1	+	2	674	c.19G>C	c.(19-21)Gag>Cag	p.E7Q	ZNF574_ENST00000222339.7_Missense_Mutation_p.E97Q|CTB-59C6.3_ENST00000594531.1_RNA|ZNF574_ENST00000359044.4_Missense_Mutation_p.E7Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E7Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GGAATCAGAGGAGACAGTCCT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											124.0	120.0	121.0					19																	42582777		2203	4300	6503	SO:0001583	missense	64763			AK074788	CCDS12596.1	19q13.2	2013-09-20			ENSG00000105732	ENSG00000105732		"""Zinc fingers, C2H2-type"""	26166	protein-coding gene	gene with protein product						12477932	Standard	NM_022752		Approved	FLJ22059	uc002osm.4	Q6ZN55	OTTHUMG00000182751	ENST00000600245.1:c.19G>C	19.37:g.42582777G>C	ENSP00000469029:p.Glu7Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IPE0|Q6ZN10|Q7L5Z5|Q8NCE3|Q9H6N0	Missense_Mutation	SNP	ENST00000600245.1	37	CCDS12596.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395960	0.62177	.	.	ENSG00000105732	ENST00000222339;ENST00000359044	T;T	0.06449	3.3;3.3	3.82	3.82	0.43975	.	0.387498	0.22093	U	0.064726	T	0.11922	0.0290	L	0.36672	1.1	0.37471	D	0.915618	D;D	0.64830	0.971;0.994	P;D	0.65773	0.746;0.938	T	0.03306	-1.1050	10	0.02654	T	1	-10.6921	14.6304	0.68653	0.0:0.0:1.0:0.0	.	7;96	Q6ZN55;Q6ZN55-2	ZN574_HUMAN;.	Q	97;7	ENSP00000222339:E97Q;ENSP00000351939:E7Q	ENSP00000222339:E97Q	E	+	1	0	ZNF574	47274617	0.129000	0.22400	0.997000	0.53966	0.764000	0.43329	2.390000	0.44416	1.981000	0.57761	0.467000	0.42956	GAG		0.547	ZNF574-002	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463458.1		NM_022752	
ZNF721	170960	broad.mit.edu;hgsc.bcm.edu	37	4	436954	436954	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr4:436954T>G	ENST00000338977.5	-	2	1314	c.1266A>C	c.(1264-1266)gaA>gaC	p.E422D	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E434D			Q8TF20	ZN721_HUMAN	zinc finger protein 721	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E204D(1)|p.E434D(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTTTCTTATATTCATTCAGGT	0.373																																																	2	Substitution - Missense(2)	kidney(2)											59.0	61.0	60.0					4																	436954		1996	4199	6195	SO:0001583	missense	170960			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1266A>C	4.37:g.436954T>G	ENSP00000340524:p.Glu422Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37		.	.	.	.	.	.	.	.	.	.	T	0.551	-0.849232	0.02651	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.19394	2.15;2.15	0.71	-0.669	0.11388	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09069	0.0224	N	0.16656	0.425	0.09310	N	1	B;B;B	0.31752	0.338;0.041;0.033	B;B;B	0.29862	0.108;0.009;0.005	T	0.36261	-0.9755	9	0.12430	T	0.62	.	4.0227	0.09673	0.0:0.2739:0.0:0.7261	.	422;434;434	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	D	422;434	ENSP00000340524:E422D;ENSP00000428878:E434D	ENSP00000340524:E422D	E	-	3	2	ZNF721	426954	0.002000	0.14202	0.000000	0.03702	0.005000	0.04900	-1.809000	0.01731	-0.246000	0.09611	0.163000	0.16589	GAA		0.373	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1		NM_133474	
ZNF79	7633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	130207059	130207060	+	Missense_Mutation	DNP	CT	CT	TC			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr9:130207059_130207060CT>TC	ENST00000342483.5	+	5	1486_1487	c.1080_1081CT>TC	c.(1078-1083)ccCTac>ccTCac	p.Y361H	RPL12_ENST00000497322.1_5'Flank|ZNF79_ENST00000543471.1_Missense_Mutation_p.Y337H	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	361					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P360>?(1)|p.Y361H(1)|p.P360P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						GGGAGAAGCCCTACAGATGTGC	0.574																																																	3	Substitution - Missense(1)|Substitution - coding silent(1)|Complex(1)	kidney(3)																																								SO:0001583	missense	7633			X65232	CCDS6871.1, CCDS69664.1, CCDS75904.1	9q34	2013-01-08	2006-05-12		ENSG00000196152	ENSG00000196152		"""Zinc fingers, C2H2-type"""	13153	protein-coding gene	gene with protein product		194552	"""zinc finger protein 79 (pT7)"""			8478004	Standard	NM_007135		Approved	pT7	uc004bqw.4	Q15937	OTTHUMG00000020703	Exception_encountered	9.37:g.130207059_130207060delinsTC	ENSP00000362446:p.Tyr361His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVW1|Q96NV1	Silent|Missense_Mutation	SNP	ENST00000342483.5	37	CCDS6871.1																																																																																				0.574	ZNF79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054188.1		NM_007135	
ZNF878	729747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	12155240	12155240	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr19:12155240A>T	ENST00000547628.1	-	4	1113	c.976T>A	c.(976-978)Ttt>Att	p.F326I	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000602107.1_Missense_Mutation_p.F373I	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F326I(2)		cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TGATAGCGAAAGGAAGTGGAA	0.388																																																	2	Substitution - Missense(2)	kidney(2)											78.0	85.0	83.0					19																	12155240		2171	4283	6454	SO:0001583	missense	729747				CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.976T>A	19.37:g.12155240A>T	ENSP00000447931:p.Phe326Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000547628.1	37	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	A	13.77	2.336287	0.41398	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.18960	2.18	1.3	-2.08	0.07254	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19167	0.0460	N	0.17312	0.475	0.09310	N	1	D	0.55605	0.972	P	0.58721	0.844	T	0.16305	-1.0407	9	0.72032	D	0.01	.	3.9897	0.09532	0.1921:0.0:0.5867:0.2212	.	326	C9JN71	ZN878_HUMAN	I	326;373	ENSP00000447931:F326I	ENSP00000447931:F326I	F	-	1	0	AC022415.4;ZNF878	12016240	0.000000	0.05858	0.001000	0.08648	0.343000	0.28985	-0.120000	0.10660	-0.168000	0.10853	0.260000	0.18958	TTT		0.388	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1		NM_001080404	
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	3921211	3921211	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:3921211C>T	ENST00000381638.2	-	47	7684	c.7560G>A	c.(7558-7560)cgG>cgA	p.R2520R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2520							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R2520R(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGGGCTGCCACCGCTGAGCCA	0.537																																																	1	Substitution - coding silent(1)	kidney(1)											131.0	108.0	116.0					17																	3921211		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.7560G>A	17.37:g.3921211C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.537	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4005690	4005690	+	Silent	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr17:4005690A>G	ENST00000381638.2	-	9	1717	c.1593T>C	c.(1591-1593)acT>acC	p.T531T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	531							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.T531T(1)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGCCTGAAGAGTCAACTGGA	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											139.0	118.0	125.0					17																	4005690		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1593T>C	17.37:g.4005690A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	ENST00000381638.2	37	CCDS11043.1																																																																																				0.448	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1		NM_015113	
AGFG2	3268	broad.mit.edu	37	7	100137100	100137101	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:100137100_100137101insC	ENST00000300176.4	+	1	253_254	c.131_132insC	c.(130-135)aaccgcfs	p.R45fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.R45fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	45	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGCCGGGAACCGCCACTGCT	0.733																																																	0																																										SO:0001589	frameshift_variant	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.133dupC	7.37:g.100137102_100137102dupC	ENSP00000300176:p.Arg45fs	Somatic		WXS	Illumina GAIIx	Phase_I	O75429|Q96AB9|Q96GL4	Frame_Shift_Ins	INS	ENST00000300176.4	37	CCDS5697.1																																																																																				0.733	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1		NM_006076	
AVIL	10677	broad.mit.edu	37	12	58204236	58204236	+	Silent	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:58204236C>T	ENST00000257861.3	-	6	1087	c.657G>A	c.(655-657)ctG>ctA	p.L219L	AVIL_ENST00000537081.1_Silent_p.L212L	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	219	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)	p.L219L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGACCTTCATCAGCTCTGGGC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											130.0	112.0	118.0					12																	58204236		2203	4300	6503	SO:0001819	synonymous_variant	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.657G>A	12.37:g.58204236C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	CCDS8959.1																																																																																				0.517	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1		NM_006576	
CPO	130749	broad.mit.edu	37	2	207820279	207820279	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:207820279T>A	ENST00000272852.3	+	3	304	c.258T>A	c.(256-258)taT>taA	p.Y86*		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	86						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.Y86*(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		ACCCCATGTATTATCTGAAGG	0.433																																																	1	Substitution - Nonsense(1)	kidney(1)											145.0	128.0	134.0					2																	207820279		2203	4300	6503	SO:0001587	stop_gained	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.258T>A	2.37:g.207820279T>A	ENSP00000272852:p.Tyr86*	Somatic		WXS	Illumina GAIIx	Phase_I	Q2M277|Q7RTW7	Nonsense_Mutation	SNP	ENST00000272852.3	37	CCDS2372.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.519328	0.64634	.	.	ENSG00000144410	ENST00000272852	.	.	.	5.11	3.97	0.46021	.	0.460397	0.25283	N	0.031797	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9578	0.19283	0.0:0.2025:0.0:0.7975	.	.	.	.	X	86	.	ENSP00000272852:Y86X	Y	+	3	2	CPO	207528524	1.000000	0.71417	0.995000	0.50966	0.312000	0.27988	2.145000	0.42207	0.990000	0.38787	0.459000	0.35465	TAT		0.433	CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2		NM_173077	
DOCK5	80005	broad.mit.edu	37	8	25158135	25158135	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr8:25158135G>T	ENST00000276440.7	+	9	852	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	DOCK5_ENST00000481100.1_Nonsense_Mutation_p.E270*	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	270					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.E270*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GATGCCCAAGGAAATAGAGAA	0.403																																					Pancreas(145;34 1887 3271 10937 30165)												1	Substitution - Nonsense(1)	kidney(1)											158.0	140.0	146.0					8																	25158135		2203	4300	6503	SO:0001587	stop_gained	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.808G>T	8.37:g.25158135G>T	ENSP00000276440:p.Glu270*	Somatic		WXS	Illumina GAIIx	Phase_I	B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Nonsense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	38	7.189234	0.98125	.	.	ENSG00000147459	ENST00000481100;ENST00000276440	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.0044	0.97430	0.0:0.0:1.0:0.0	.	.	.	.	X	270	.	ENSP00000276440:E270X	E	+	1	0	DOCK5	25214052	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.758000	0.98927	2.809000	0.96659	0.555000	0.69702	GAA		0.403	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2		NM_024940	
GOLGA6L5P	374650	broad.mit.edu	37	15	85056021	85056021	+	RNA	SNP	T	T	C	rs1062001		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr15:85056021T>C	ENST00000560239.1	-	0	984				GOLGA6L5_ENST00000414190.2_RNA																							GTAGCTGCTCTACCTTAGATG	0.502																																																	0																																												374650																															15.37:g.85056021T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000560239.1	37																																																																																					0.502	RP11-182J1.12-001	KNOWN	mRNA_end_NF|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000418581.1			
ITSN2	50618	broad.mit.edu	37	2	24524884	24524884	+	Silent	SNP	T	T	G	rs199950309		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr2:24524884T>G	ENST00000355123.4	-	10	1388	c.945A>C	c.(943-945)ggA>ggC	p.G315G	ITSN2_ENST00000361999.3_Silent_p.G315G|ITSN2_ENST00000406921.3_Silent_p.G315G	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	315	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)	p.G314G(1)|p.G315G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTAATGGCTGTCCAGCTTTGG	0.458																																																	2	Substitution - coding silent(2)	kidney(2)											114.0	99.0	104.0					2																	24524884		2203	4300	6503	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.945A>C	2.37:g.24524884T>G		Somatic		WXS	Illumina GAIIx	Phase_I	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				0.458	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2		NM_006277	
NBPF22P	285622	broad.mit.edu	37	5	85578601	85578601	+	RNA	SNP	C	C	A	rs540956745	byFrequency	TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr5:85578601C>A	ENST00000590707.1	+	0	324					NR_003719.2				neuroblastoma breakpoint family, member 22, pseudogene																		TATCTGCCGACCCTTTGTCCA	0.512													c|||	3	0.000599042	0.0023	0.0	5008	,	,		19368	0.0		0.0	False		,,,				2504	0.0																0																																												285622			BC050328		5q14.3	2013-01-17	2011-04-15		ENSG00000205449	ENSG00000205449		"""neuroblastoma breakpoint family"""	28731	pseudogene	pseudogene						16079250	Standard	NR_003719		Approved	MGC48637	uc003kiq.3		OTTHUMG00000162585		5.37:g.85578601C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000590707.1	37																																																																																					0.512	NBPF22P-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000453100.1		XM_208333	
PLXNA4	91584	broad.mit.edu	37	7	132193205	132193205	+	Missense_Mutation	SNP	G	G	A	rs199571283		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr7:132193205G>A	ENST00000359827.3	-	2	1210	c.248C>T	c.(247-249)aCg>aTg	p.T83M	PLXNA4_ENST00000423507.2_Missense_Mutation_p.T83M|PLXNA4_ENST00000378539.5_Missense_Mutation_p.T83M|PLXNA4_ENST00000321063.4_Missense_Mutation_p.T83M			Q9HCM2	PLXA4_HUMAN	plexin A4	83	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T83M(4)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTCATGCGTCACCAAGAC	0.557																																																	4	Substitution - Missense(4)	kidney(4)											62.0	64.0	63.0					7																	132193205		2203	4300	6503	SO:0001583	missense	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.248C>T	7.37:g.132193205G>A	ENSP00000352882:p.Thr83Met	Somatic		WXS	Illumina GAIIx	Phase_I	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	15.62	2.888295	0.52014	.	.	ENSG00000221866	ENST00000321063;ENST00000359827;ENST00000423507;ENST00000378539	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.899459	0.09264	U	0.826092	T	0.34395	0.0896	L	0.55990	1.75	0.48288	D	0.999629	D;D;D	0.64830	0.993;0.994;0.991	P;P;P	0.59595	0.852;0.86;0.804	T	0.02391	-1.1166	10	0.51188	T	0.08	.	19.1535	0.93499	0.0:0.0:1.0:0.0	.	83;83;83	Q9HCM2-2;A4D1N6;Q9HCM2	.;.;PLXA4_HUMAN	M	83	ENSP00000323194:T83M;ENSP00000352882:T83M;ENSP00000392772:T83M;ENSP00000367800:T83M	ENSP00000323194:T83M	T	-	2	0	PLXNA4	131843745	1.000000	0.71417	0.999000	0.59377	0.285000	0.27093	6.312000	0.72840	2.537000	0.85549	0.462000	0.41574	ACG		0.557	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775	
WNT5B	81029	broad.mit.edu	37	12	1748873	1748873	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:1748873C>T	ENST00000397196.2	+	4	584	c.352C>T	c.(352-354)Cac>Tac	p.H118Y	WNT5B_ENST00000537031.1_Missense_Mutation_p.H118Y|WNT5B_ENST00000310594.3_Missense_Mutation_p.H118Y|WNT5B_ENST00000542408.1_Intron	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	118					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)	p.H118Y(1)		skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CGCCTTCACCCACGCGGTGAG	0.736																																																	1	Substitution - Missense(1)	kidney(1)											8.0	8.0	8.0					12																	1748873		2111	4141	6252	SO:0001583	missense	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.352C>T	12.37:g.1748873C>T	ENSP00000380379:p.His118Tyr	Somatic		WXS	Illumina GAIIx	Phase_I	A8K315|D3DUP9|Q96S49|Q9BV04	Missense_Mutation	SNP	ENST00000397196.2	37	CCDS8510.1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.349526	0.01266	.	.	ENSG00000111186	ENST00000539198;ENST00000545811;ENST00000537031;ENST00000310594;ENST00000397196;ENST00000543071	T;T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85;-0.85	4.59	3.43	0.39272	.	0.057149	0.64402	N	0.000001	T	0.38772	0.1053	N	0.01188	-0.97	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.37384	-0.9708	10	0.02654	T	1	.	8.1953	0.31392	0.0:0.1687:0.0:0.8313	.	118	Q9H1J7	WNT5B_HUMAN	Y	118	ENSP00000438414:H118Y;ENSP00000445395:H118Y;ENSP00000439312:H118Y;ENSP00000308887:H118Y;ENSP00000380379:H118Y;ENSP00000442348:H118Y	ENSP00000308887:H118Y	H	+	1	0	WNT5B	1619134	1.000000	0.71417	0.917000	0.36280	0.009000	0.06853	5.035000	0.64158	0.160000	0.19432	-0.817000	0.03123	CAC		0.736	WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2			
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																																	4	Substitution - Missense(4)	kidney(3)|lung(1)											10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T		Somatic		WXS	Illumina GAIIx	Phase_I	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1		NM_018082	Missense_Mutation
ZNF322	79692	broad.mit.edu	37	6	26638479	26638479	+	Silent	SNP	A	A	G			TCGA-BP-4964-01A-01D-1462-08	TCGA-BP-4964-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b838251-67f5-4e22-a291-8a9e206d56db	30a80165-2c9b-4170-9907-275a227b32bf	g.chr6:26638479A>G	ENST00000415922.2	-	4	948	c.303T>C	c.(301-303)tgT>tgC	p.C101C	ZNF322_ENST00000461899.1_5'Flank|RP11-457M11.2_ENST00000456172.1_RNA|ZNF322_ENST00000471278.1_Silent_p.C101C	NM_024639.4	NP_078915.2	Q6U7Q0	ZN322_HUMAN	zinc finger protein 322	101				C -> R (in Ref. 1; AAQ85127). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C101C(1)									CACATTTGCTACATTTATAAG	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											118.0	118.0	118.0					6																	26638479		2201	4299	6500	SO:0001819	synonymous_variant	0			AY376736	CCDS4617.1	6p22.1	2013-01-08	2011-07-29	2011-07-29	ENSG00000181315	ENSG00000181315		"""Zinc fingers, C2H2-type"""	23640	protein-coding gene	gene with protein product		610847	"""zinc finger protein 489"", ""HLA complex group 12"", ""zinc finger protein 322A"""	ZNF489, ZNF388, HCG12, ZNF322A		15555580	Standard	NM_024639		Approved	bA457M11.3, bA457M11.2	uc021yny.1	Q6U7Q0	OTTHUMG00000014460	ENST00000415922.2:c.303T>C	6.37:g.26638479A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A8K1X3|Q0VDH6|Q6B0G2|Q86W72|Q9H5I9	Silent	SNP	ENST00000415922.2	37	CCDS4617.1																																																																																				0.378	ZNF322-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040126.2		NM_024639	
