#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
OSBPL5	114879	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	11	3114269	3114269	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:3114269C>T	ENST00000263650.7	-	18	2119	c.1960G>A	c.(1960-1962)Gtc>Atc	p.V654I	OSBPL5_ENST00000389989.3_Missense_Mutation_p.V586I|OSBPL5_ENST00000525498.1_Missense_Mutation_p.V565I|OSBPL5_ENST00000542243.1_Missense_Mutation_p.V285I|OSBPL5_ENST00000348039.5_Missense_Mutation_p.V586I|OSBPL5_ENST00000478260.1_Missense_Mutation_p.V108I	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	654					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCCCTGGTGACGTGCTGCCAG	0.682																																						.											0													35.0	29.0	31.0					11																	3114269		2201	4295	6496	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.1960G>A	11.37:g.3114269C>T	ENSP00000263650:p.Val654Ile		A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	ENST00000263650.7	37	CCDS31344.1	.	.	.	.	.	.	.	.	.	.	C	32	5.169387	0.94768	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23;1.23;1.23	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000003	T	0.69788	0.3150	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.997	T	0.80108	-0.1520	10	0.87932	D	0	-24.8915	16.7396	0.85455	0.0:1.0:0.0:0.0	.	565;586;654	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	I	108;654;586;207;565;285;586;273	ENSP00000437141:V108I;ENSP00000263650:V654I;ENSP00000374639:V586I;ENSP00000431412:V207I;ENSP00000433342:V565I;ENSP00000441551:V285I;ENSP00000302872:V586I	ENSP00000263650:V654I	V	-	1	0	OSBPL5	3070845	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	6.843000	0.75384	2.275000	0.75901	0.561000	0.74099	GTC		0.682	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032332.2		
WDR66	144406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	12	122406016	122406016	+	Silent	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:122406016C>T	ENST00000288912.4	+	17	3566	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	WDR66_ENST00000397454.2_Silent_p.C904C|WDR66_ENST00000545752.1_3'UTR	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	904							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ATGATGGCTGCTACGCCTTCA	0.537																																					Esophageal Squamous(85;849 1794 49757 52143)	.											0													69.0	69.0	69.0					12																	122406016		1964	4142	6106	SO:0001819	synonymous_variant	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.2712C>T	12.37:g.122406016C>T			C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	CCDS41853.1																																																																																				0.537	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
OPRD1	4985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	29189494	29189494	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:29189494G>A	ENST00000234961.2	+	3	1060	c.818G>A	c.(817-819)tGt>tAt	p.C273Y		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	273					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adult locomotory behavior (GO:0008344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|negative regulation of gene expression (GO:0010629)|negative regulation of protein oligomerization (GO:0032460)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein import into nucleus, translocation (GO:0000060)|regulation of calcium ion transport (GO:0051924)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of sensory perception of pain (GO:0051930)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	enkephalin receptor activity (GO:0038046)|opioid receptor activity (GO:0004985)			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TTCGTGGTGTGTTGGGCGCCC	0.677																																						.											0													33.0	29.0	30.0					1																	29189494		2201	4298	6499	SO:0001583	missense	4985			U10504	CCDS329.1	1p36.1-p34.3	2012-08-08			ENSG00000116329	ENSG00000116329		"""GPCR / Class A : Opioid receptors"""	8153	protein-coding gene	gene with protein product		165195				8415697	Standard	NM_000911		Approved		uc001brf.1	P41143	OTTHUMG00000003646	ENST00000234961.2:c.818G>A	1.37:g.29189494G>A	ENSP00000234961:p.Cys273Tyr		B5B0B8	Missense_Mutation	SNP	ENST00000234961.2	37	CCDS329.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814486	0.70912	.	.	ENSG00000116329	ENST00000234961;ENST00000536280	T	0.54279	0.58	4.06	3.15	0.36227	GPCR, rhodopsin-like superfamily (1);	0.170740	0.53938	D	0.000050	T	0.81264	0.4786	H	0.98951	4.38	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84377	0.0547	10	0.87932	D	0	.	9.3973	0.38410	0.1059:0.0:0.8941:0.0	.	273	P41143	OPRD_HUMAN	Y	273;225	ENSP00000234961:C273Y	ENSP00000234961:C273Y	C	+	2	0	OPRD1	29062081	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.646000	0.98474	0.926000	0.37118	0.462000	0.41574	TGT		0.677	OPRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010330.1	NM_000911	
OR11H12	440153	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	14	19377804	19377804	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr14:19377804C>A	ENST00000550708.1	+	1	283	c.211C>A	c.(211-213)Cac>Aac	p.H71N		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	71						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGCGACTTCACACTCCCAT	0.418																																						.											0													96.0	106.0	103.0					14																	19377804		1966	4090	6056	SO:0001583	missense	440153				CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.211C>A	14.37:g.19377804C>A	ENSP00000449002:p.His71Asn			Missense_Mutation	SNP	ENST00000550708.1	37	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	10.91	1.484578	0.26598	.	.	ENSG00000257115	ENST00000550708	T	0.15952	2.38	0.585	0.585	0.17428	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000480	T	0.40322	0.1112	M	0.88775	2.98	0.22620	N	0.998921	D	0.76494	0.999	D	0.74023	0.982	T	0.54118	-0.8341	9	0.72032	D	0.01	.	7.1009	0.25336	0.0:0.9999:0.0:1.0E-4	.	71	B2RN74	O11HC_HUMAN	N	71	ENSP00000449002:H71N	ENSP00000449002:H71N	H	+	1	0	CR383656.1	18447804	0.637000	0.27216	0.160000	0.22671	0.093000	0.18481	1.738000	0.38207	0.619000	0.30197	0.064000	0.15345	CAC		0.418	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354	
DICER1	23405	hgsc.bcm.edu;ucsc.edu	37	14	95579561	95579561	+	Splice_Site	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr14:95579561T>C	ENST00000526495.1	-	14	2199	c.1908A>G	c.(1906-1908)agA>agG	p.R636R	DICER1_ENST00000527414.1_Splice_Site_p.R636R|DICER1_ENST00000393063.1_Splice_Site_p.R636R|DICER1_ENST00000343455.3_Splice_Site_p.R636R|DICER1_ENST00000541352.1_Splice_Site_p.R636R			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	636	Dicer dsRNA-binding fold. {ECO:0000255|PROSITE-ProRule:PRU00657}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TAGCACAGTATCTGTGAAGAA	0.383			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													79.0	80.0	80.0					14																	95579561		2203	4300	6503	SO:0001630	splice_region_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.1908-1A>G	14.37:g.95579561T>C			A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.383	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		Silent
TTC19	54902	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	17	15930770	15930770	+	Silent	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr17:15930770C>T	ENST00000261647.5	+	10	1546	c.1077C>T	c.(1075-1077)caC>caT	p.H359H	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.H480H	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	359					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTGTACAACACATCAGGGAAG	0.378																																						.											0													116.0	106.0	109.0					17																	15930770		2203	4300	6503	SO:0001819	synonymous_variant	54902			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.1077C>T	17.37:g.15930770C>T			A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	ENST00000261647.5	37	CCDS11174.2																																																																																				0.378	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775	
SYT4	6860	hgsc.bcm.edu;ucsc.edu	37	18	40850387	40850387	+	Silent	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr18:40850387T>C	ENST00000255224.3	-	4	1565	c.1197A>G	c.(1195-1197)ggA>ggG	p.G399G	SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Silent_p.G381G	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	399					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CTCCACCAGTTCCTTCTGCTG	0.493																																					NSCLC(85;81 1419 2855 22820 35912)	.											0													156.0	155.0	156.0					18																	40850387		2203	4300	6503	SO:0001819	synonymous_variant	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1197A>G	18.37:g.40850387T>C			B4DEU3|Q9P2K4	Silent	SNP	ENST00000255224.3	37	CCDS11922.1																																																																																				0.493	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
NOSIP	51070	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	19	50059875	50059875	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:50059875T>C	ENST00000596358.1	-	7	714	c.656A>G	c.(655-657)gAg>gGg	p.E219G	NOSIP_ENST00000339093.3_Missense_Mutation_p.E222G|NOSIP_ENST00000391853.3_Missense_Mutation_p.E219G	NM_001270960.1	NP_001257889.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	219					negative regulation of catalytic activity (GO:0043086)|negative regulation of nitric-oxide synthase activity (GO:0051001)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		CACGTAGCGCTCGCTGCGGGT	0.692																																						.											0													35.0	31.0	33.0					19																	50059875		2203	4299	6502	SO:0001583	missense	51070			AF132959	CCDS12772.1	19q13.3	2008-02-05				ENSG00000142546			17946	protein-coding gene	gene with protein product						11149895, 10810093	Standard	NM_015953		Approved	CGI-25	uc002pol.4	Q9Y314		ENST00000596358.1:c.656A>G	19.37:g.50059875T>C	ENSP00000470034:p.Glu219Gly		Q96FD2	Missense_Mutation	SNP	ENST00000596358.1	37	CCDS12772.1	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328939	0.60743	.	.	ENSG00000142546	ENST00000339093;ENST00000391853	T	0.76186	-1.0	4.62	4.62	0.57501	.	0.054667	0.64402	D	0.000001	T	0.51736	0.1692	N	0.03268	-0.37	0.53688	D	0.999972	P	0.47545	0.897	B	0.42214	0.38	T	0.55315	-0.8160	10	0.21540	T	0.41	-51.4282	13.146	0.59461	0.0:0.0:0.0:1.0	.	219	Q9Y314	NOSIP_HUMAN	G	219	ENSP00000375726:E219G	ENSP00000343497:E219G	E	-	2	0	NOSIP	54751687	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.677000	0.74503	1.951000	0.56629	0.379000	0.24179	GAG		0.692	NOSIP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465423.1		
NXPE3	91775	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	3	101540561	101540561	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:101540561C>G	ENST00000491511.2	+	8	2399	c.1443C>G	c.(1441-1443)atC>atG	p.I481M	NXPE3_ENST00000477909.1_Missense_Mutation_p.I481M|RP11-49I4.3_ENST00000490324.2_RNA|NXPE3_ENST00000422132.1_Missense_Mutation_p.I481M|NXPE3_ENST00000273347.5_Missense_Mutation_p.I481M	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	481						extracellular region (GO:0005576)											TGGTGGTCATCCGGACGGCCA	0.577																																						.											0													97.0	99.0	99.0					3																	101540561		2203	4300	6503	SO:0001583	missense	91775			AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.1443C>G	3.37:g.101540561C>G	ENSP00000417485:p.Ile481Met		A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887089	0.72410	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	6.03	1.61	0.23674	.	0.132273	0.64402	D	0.000002	T	0.39860	0.1094	M	0.87097	2.86	0.49798	D	0.999823	D	0.53151	0.958	P	0.57548	0.823	T	0.25187	-1.0139	10	0.87932	D	0	-21.7103	6.309	0.21154	0.2333:0.5725:0.0:0.1942	.	481	Q969Y0	FA55C_HUMAN	M	481	ENSP00000273347:I481M;ENSP00000417485:I481M;ENSP00000418369:I481M;ENSP00000396421:I481M	ENSP00000273347:I481M	I	+	3	3	FAM55C	103023251	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.415000	0.21181	0.397000	0.25310	0.655000	0.94253	ATC		0.577	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037	
C4orf32	132720	hgsc.bcm.edu	37	4	113066760	113066760	+	Silent	SNP	G	G	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr4:113066760G>A	ENST00000309733.5	+	1	208	c.24G>A	c.(22-24)ctG>ctA	p.L8L		NM_152400.2	NP_689613.1	Q8N8J7	CD032_HUMAN	chromosome 4 open reading frame 32	8						integral component of membrane (GO:0016021)							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		GGGAGCTGCTGCGGggcggcg	0.801																																						.											0													4.0	7.0	6.0					4																	113066760		1921	3901	5822	SO:0001819	synonymous_variant	132720			AK096689	CCDS3695.1	4q25	2008-02-05			ENSG00000174749	ENSG00000174749			26813	protein-coding gene	gene with protein product						12477932	Standard	NM_152400		Approved	FLJ39370	uc003iah.2	Q8N8J7	OTTHUMG00000132851	ENST00000309733.5:c.24G>A	4.37:g.113066760G>A			Q49A91|Q4W5C7|Q8TBF9	Silent	SNP	ENST00000309733.5	37	CCDS3695.1																																																																																				0.801	C4orf32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256325.2	NM_152400	
KIAA1109	84162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	123160846	123160846	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr4:123160846G>A	ENST00000264501.4	+	29	4382	c.4009G>A	c.(4009-4011)Gtt>Att	p.V1337I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V1337I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V1337I|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	1337					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCTGTAACAGTTGGAGTCCA	0.453																																						.											0													113.0	107.0	109.0					4																	123160846		1929	4137	6066	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4009G>A	4.37:g.123160846G>A	ENSP00000264501:p.Val1337Ile		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.00|15.00	2.702329|2.702329	0.48307|0.48307	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.24151	.|2.46;2.46;1.87	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.167504	.|0.24285	.|U	.|0.039870	T|T	0.16171|0.16171	0.0389|0.0389	N|N	0.08118|0.08118	0|0	0.31861|0.31861	N|N	0.620946|0.620946	.|B	.|0.17038	.|0.02	.|B	.|0.19148	.|0.024	T|T	0.08700|0.08700	-1.0709|-1.0709	5|10	.|0.52906	.|T	.|0.07	.|.	15.204|15.204	0.73162|0.73162	0.0:0.0:0.8592:0.1407|0.0:0.0:0.8592:0.1407	.|.	.|1337	.|Q2LD37	.|K1109_HUMAN	N|I	1168|1337	.|ENSP00000264501:V1337I;ENSP00000373390:V1337I;ENSP00000389925:V1337I	.|ENSP00000264501:V1337I	S|V	+|+	2|1	0|0	KIAA1109|KIAA1109	123380296|123380296	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.960000|0.960000	0.62799|0.62799	7.351000|7.351000	0.79395|0.79395	2.843000|2.843000	0.97960|0.97960	0.650000|0.650000	0.86243|0.86243	AGT|GTT		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
SESN1	27244	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	109315685	109315685	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:109315685C>A	ENST00000356644.7	-	6	1017	c.923G>T	c.(922-924)aGt>aTt	p.S308I	SESN1_ENST00000436639.2_Missense_Mutation_p.S367I|SESN1_ENST00000302071.2_Missense_Mutation_p.S242I	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	308					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GACAAACATACTCTCTCTTTT	0.338																																						.											0													137.0	123.0	128.0					6																	109315685		2203	4299	6502	SO:0001583	missense	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.923G>T	6.37:g.109315685C>A	ENSP00000349061:p.Ser308Ile		Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297729	0.81025	.	.	ENSG00000080546	ENST00000436639;ENST00000302071;ENST00000356644	T;T;T	0.24350	1.86;1.86;1.86	5.81	5.81	0.92471	.	0.036231	0.85682	D	0.000000	T	0.34832	0.0911	M	0.86953	2.85	0.80722	D	1	P;P	0.48016	0.904;0.611	P;B	0.45829	0.494;0.425	T	0.30475	-0.9977	10	0.38643	T	0.18	-50.3162	20.0912	0.97820	0.0:1.0:0.0:0.0	.	367;308	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	I	367;242;308	ENSP00000393762:S367I;ENSP00000306734:S242I;ENSP00000349061:S308I	ENSP00000306734:S242I	S	-	2	0	SESN1	109422378	1.000000	0.71417	1.000000	0.80357	0.444000	0.32077	7.487000	0.81328	2.746000	0.94184	0.591000	0.81541	AGT		0.338	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454	
RC3H2	54542	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	9	125616244	125616244	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:125616244A>G	ENST00000373670.1	-	17	3704	c.3104T>C	c.(3103-3105)cTa>cCa	p.L1035P	RC3H2_ENST00000423239.2_Missense_Mutation_p.L1035P|RC3H2_ENST00000357244.2_Missense_Mutation_p.L1035P			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	1035					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCCATTTCTTAGTTCAATTTC	0.413																																						.											0													119.0	109.0	112.0					9																	125616244		1885	4119	6004	SO:0001583	missense	54542			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.3104T>C	9.37:g.125616244A>G	ENSP00000362774:p.Leu1035Pro		Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	ENST00000373670.1	37	CCDS43874.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.66|17.66	3.443823|3.443823	0.63067|0.63067	.|.	.|.	ENSG00000056586|ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239|ENST00000454740	T;T;T|.	0.54675|.	0.77;0.77;0.56|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.64402|.	D|.	0.000014|.	T|.	0.38852|.	0.1056|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	D;D|.	0.69078|.	0.995;0.997|.	D;D|.	0.78314|.	0.979;0.991|.	T|.	0.34304|.	-0.9834|.	10|.	0.46703|.	T|.	0.11|.	-19.9616|-19.9616	14.3157|14.3157	0.66450|0.66450	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1035;1035|.	Q9HBD1;Q9HBD1-4|.	RC3H2_HUMAN;.|.	P|Q	1035;1035;906;1035|94	ENSP00000362774:L1035P;ENSP00000349783:L1035P;ENSP00000411767:L1035P|.	ENSP00000349783:L1035P|.	L|X	-|-	2|1	0|0	RC3H2|RC3H2	124656065|124656065	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.078000|4.078000	0.57606|0.57606	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	CTA|TAA		0.413	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053966.1	NM_018835	
ARID5B	84159	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	10	63851395	63851395	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr10:63851395A>G	ENST00000279873.7	+	10	2583	c.2173A>G	c.(2173-2175)Agg>Ggg	p.R725G	ARID5B_ENST00000309334.5_Missense_Mutation_p.R482G	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	725					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					ACTGATTGCTAGGGATGACTT	0.527																																						.											0													117.0	117.0	117.0					10																	63851395		2203	4300	6503	SO:0001583	missense	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.2173A>G	10.37:g.63851395A>G	ENSP00000279873:p.Arg725Gly		B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Missense_Mutation	SNP	ENST00000279873.7	37	CCDS31208.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.623365	0.28889	.	.	ENSG00000150347	ENST00000279873;ENST00000309334	T;T	0.48836	0.81;0.8	5.87	2.04	0.26737	.	0.348813	0.35407	N	0.003240	T	0.35595	0.0937	L	0.46157	1.445	0.38041	D	0.93547	P	0.38922	0.651	B	0.29598	0.104	T	0.23226	-1.0194	10	0.40728	T	0.16	-22.096	13.3072	0.60359	0.6222:0.3778:0.0:0.0	.	725	Q14865	ARI5B_HUMAN	G	725;482	ENSP00000279873:R725G;ENSP00000308862:R482G	ENSP00000279873:R725G	R	+	1	2	ARID5B	63521401	0.973000	0.33851	0.231000	0.23993	0.995000	0.86356	2.314000	0.43743	0.088000	0.17205	0.533000	0.62120	AGG		0.527	ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
DMAP1	55929	hgsc.bcm.edu	37	1	44684410	44684410	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:44684410A>G	ENST00000372289.2	+	5	966	c.703A>G	c.(703-705)Aac>Gac	p.N235D	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Missense_Mutation_p.N235D|DMAP1_ENST00000361745.6_Missense_Mutation_p.N235D	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	235					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					GCGTCTCTACAACCGGACCCC	0.577											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													99.0	94.0	96.0					1																	44684410		2203	4300	6503	SO:0001583	missense	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.703A>G	1.37:g.44684410A>G	ENSP00000361363:p.Asn235Asp	925	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	ENST00000372289.2	37	CCDS509.1	.	.	.	.	.	.	.	.	.	.	A	14.56	2.570838	0.45798	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000372283;ENST00000440641;ENST00000437511;ENST00000315913;ENST00000372289	.	.	.	5.79	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.44726	0.1307	L	0.33293	1	0.58432	D	0.999999	B;B	0.20988	0.05;0.013	B;B	0.17722	0.019;0.019	T	0.35992	-0.9766	9	0.33141	T	0.24	-4.3399	11.2457	0.48996	0.929:0.0:0.071:0.0	.	225;235	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	D	235;235;261;235;261;235;235	.	ENSP00000312697:N235D	N	+	1	0	DMAP1	44456997	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	7.071000	0.76770	2.208000	0.71279	0.533000	0.62120	AAC		0.577	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100	
GBP2	2634	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	1	89585913	89585913	+	Missense_Mutation	SNP	A	A	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:89585913A>C	ENST00000370466.3	-	4	645	c.377T>G	c.(376-378)tTc>tGc	p.F126C	GBP2_ENST00000463660.1_5'Flank	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	126	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		ATTGTACACGAAGGTGCTGCT	0.463																																						.											0													225.0	202.0	210.0					1																	89585913		2203	4300	6503	SO:0001583	missense	2634			BC073163	CCDS719.1	1p22.2	2008-02-05			ENSG00000162645	ENSG00000162645			4183	protein-coding gene	gene with protein product		600412				1715024	Standard	NM_004120		Approved		uc001dmz.1	P32456	OTTHUMG00000010662	ENST00000370466.3:c.377T>G	1.37:g.89585913A>C	ENSP00000359497:p.Phe126Cys		Q6GPH0|Q6IAU2|Q86TB0	Missense_Mutation	SNP	ENST00000370466.3	37	CCDS719.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.467875	0.63625	.	.	ENSG00000162645	ENST00000370466	T	0.61980	0.06	3.61	3.61	0.41365	Guanylate-binding protein, N-terminal (1);	0.219316	0.29522	U	0.011901	T	0.77864	0.4194	M	0.93854	3.465	0.33741	D	0.6194	D	0.89917	1.0	D	0.85130	0.997	T	0.82067	-0.0641	10	0.72032	D	0.01	-10.754	10.5469	0.45066	1.0:0.0:0.0:0.0	.	126	P32456	GBP2_HUMAN	C	126	ENSP00000359497:F126C	ENSP00000359497:F126C	F	-	2	0	GBP2	89358501	1.000000	0.71417	0.846000	0.33378	0.978000	0.69477	6.527000	0.73803	1.627000	0.50400	0.524000	0.50904	TTC		0.463	GBP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029406.2	NM_004120	
CHD1L	9557	hgsc.bcm.edu	37	1	146767123	146767123	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:146767123C>T	ENST00000369258.4	+	23	2647	c.2627C>T	c.(2626-2628)cCt>cTt	p.P876L	CHD1L_ENST00000431239.1_Missense_Mutation_p.P782L|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000361293.5_Missense_Mutation_p.P595L|CHD1L_ENST00000369259.3_Missense_Mutation_p.P672L	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	876	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTATTTTCCTAGAAGCAAG	0.398																																						.											0													129.0	117.0	121.0					1																	146767123		2203	4300	6503	SO:0001583	missense	9557			AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.2627C>T	1.37:g.146767123C>T	ENSP00000358262:p.Pro876Leu		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837832	0.71373	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000361293	D;T;D;T	0.89123	-2.47;-1.32;-2.35;-1.46	5.27	5.27	0.74061	Appr-1-p processing (1);	0.359172	0.27636	N	0.018488	D	0.90167	0.6927	L	0.58101	1.795	0.58432	D	0.999994	D;D;P	0.60575	0.988;0.96;0.933	P;P;P	0.58721	0.844;0.711;0.518	D	0.90591	0.4537	10	0.62326	D	0.03	.	14.2767	0.66184	0.0:1.0:0.0:0.0	.	782;672;876	Q86WJ1-2;Q86WJ1-3;Q86WJ1	.;.;CHD1L_HUMAN	L	782;672;876;595	ENSP00000389031:P782L;ENSP00000358263:P672L;ENSP00000358262:P876L;ENSP00000355100:P595L	ENSP00000355100:P595L	P	+	2	0	CHD1L	145233747	0.999000	0.42202	0.995000	0.50966	0.912000	0.54170	3.836000	0.55813	2.735000	0.93741	0.655000	0.94253	CCT		0.398	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284	
TFAP2C	7022	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	55208518	55208518	+	Silent	SNP	G	G	A	rs146916115	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr20:55208518G>A	ENST00000201031.2	+	4	939	c.696G>A	c.(694-696)tcG>tcA	p.S232S	TFAP2C_ENST00000544508.1_Silent_p.S63S	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	232					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GAAGATTGTCGCTCCTCAGCT	0.537													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		16452	0.0		0.0	False		,,,				2504	0.0					.											0								G		9,4397	15.5+/-35.6	0,9,2194	102.0	85.0	91.0		696	-1.4	1.0	20	dbSNP_134	91	0,8600		0,0,4300	no	coding-synonymous	TFAP2C	NM_003222.3		0,9,6494	AA,AG,GG		0.0,0.2043,0.0692		232/451	55208518	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.696G>A	20.37:g.55208518G>A			B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Silent	SNP	ENST00000201031.2	37	CCDS13454.1																																																																																				0.537	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222	
AR	367	hgsc.bcm.edu	37	X	66765207	66765208	+	Missense_Mutation	DNP	GC	GC	AG			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chrX:66765207_66765208GC>AG	ENST00000374690.3	+	1	743_744	c.219_220GC>AG	c.(217-222)caGCag>caAGag	p.Q74E	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q74E|AR_ENST00000504326.1_Missense_Mutation_p.Q74E	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	74	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	agcagcagcagcagcagcagca	0.668									Androgen Insensitivity Syndrome																													.											0																																										SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	Exception_encountered	X.37:g.66765207_66765208delinsAG	ENSP00000363822:p.Gln74Glu		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	DNP	ENST00000374690.3	37	CCDS14387.1																																																																																				0.668	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044	
HRNR	388697	broad.mit.edu	37	1	152191466	152191466	+	Missense_Mutation	SNP	C	C	T	rs376040395	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:152191466C>T	ENST00000368801.2	-	3	2714	c.2639G>A	c.(2638-2640)cGc>cAc	p.R880H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	880					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R880H(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGGCCGCGGCCCGAAGC	0.627													C|||	2	0.000399361	0.0	0.0	5008	,	,		20954	0.0		0.001	False		,,,				2504	0.001					.											1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG	0,4406		0,0,2203	87.0	95.0	93.0		2639	-4.1	0.0	1		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	HRNR	NM_001009931.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	880/2851	152191466	1,13005	2203	4300	6503	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2639G>A	1.37:g.152191466C>T	ENSP00000357791:p.Arg880His		Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078540	0.07184	0.0	1.16E-4	ENSG00000197915	ENST00000368801	T	0.01871	4.59	2.07	-4.14	0.03892	.	.	.	.	.	T	0.00271	0.0008	N	0.19112	0.55	0.09310	N	1	P	0.46578	0.88	B	0.19946	0.027	T	0.49214	-0.8963	9	0.15499	T	0.54	.	4.0907	0.09968	0.0:0.2699:0.3225:0.4077	.	880	Q86YZ3	HORN_HUMAN	H	880	ENSP00000357791:R880H	ENSP00000357791:R880H	R	-	2	0	HRNR	150458090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.906000	0.00171	-2.279000	0.00676	-0.362000	0.07510	CGC		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
PPP1R12B	4660	broad.mit.edu;mdanderson.org;bcgsc.ca	37	1	202391786	202391786	+	Missense_Mutation	SNP	A	A	G	rs141572166	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:202391786A>G	ENST00000608999.1	+	3	614	c.461A>G	c.(460-462)aAt>aGt	p.N154S	PPP1R12B_ENST00000480184.1_Missense_Mutation_p.N154S|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.N154S|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.N154S	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	154					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GGTATTGTCAATAGTGAAGGT	0.418													A|||	2	0.000399361	0.0008	0.0	5008	,	,		19575	0.0		0.001	False		,,,				2504	0.0					.											0								A	SER/ASN,SER/ASN,SER/ASN	2,4404	4.2+/-10.8	0,2,2201	108.0	103.0	104.0		461,461,461	3.9	0.7	1	dbSNP_134	104	0,8600		0,0,4300	yes	missense,missense,missense	PPP1R12B	NM_001167857.1,NM_001167858.1,NM_002481.3	46,46,46	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	154/516,154/387,154/983	202391786	2,13004	2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.461A>G	1.37:g.202391786A>G	ENSP00000476755:p.Asn154Ser		A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	CCDS1426.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	20.4	3.985689	0.74589	4.54E-4	0.0	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.09	3.94	0.45596	Ankyrin repeat-containing domain (3);	0.085998	0.49916	D	0.000136	T	0.56558	0.1993	N	0.20574	0.59	0.80722	D	1	D;D;D;D	0.89917	0.999;0.977;1.0;0.999	D;D;D;D	0.79108	0.956;0.958;0.971;0.992	T	0.59984	-0.7351	10	0.66056	D	0.02	.	12.3285	0.55024	0.8585:0.1415:0.0:0.0	.	154;154;154;154	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	S	154	ENSP00000384496:N154S;ENSP00000337897:N154S;ENSP00000417159:N154S;ENSP00000349206:N154S	ENSP00000337897:N154S	N	+	2	0	PPP1R12B	200658409	1.000000	0.71417	0.730000	0.30809	0.964000	0.63967	8.694000	0.91293	0.851000	0.35264	0.482000	0.46254	AAT		0.418	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	
RN7SL453P	106481046	broad.mit.edu	37	10	47380033	47380033	+	RNA	SNP	G	G	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr10:47380033G>A	ENST00000582987.1	-	0	284									RNA, 7SL, cytoplasmic 453, pseudogene																		ACAGAATATAGAATCCCAGAA	0.368																																						.											0																																												439965					10q11.22	2013-04-02			ENSG00000264710			"""ncRNAs / Small cytoplasmic RNAs"""	46469	pseudogene	RNA, pseudogene							Standard			Approved						10.37:g.47380033G>A				RNA	SNP	ENST00000582987.1	37																																																																																					0.368	RN7SL453P-201	KNOWN	basic	misc_RNA	misc_RNA			
TALDO1	6888	broad.mit.edu	37	11	763428	763428	+	Silent	SNP	T	T	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:763428T>G	ENST00000319006.3	+	5	699	c.546T>G	c.(544-546)ggT>ggG	p.G182G	TALDO1_ENST00000528097.1_Silent_p.G182G			P37837	TALDO_HUMAN	transaldolase 1	182					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CCGAGGCGGGTGTGACCCTCA	0.607																																						.											0													131.0	120.0	124.0					11																	763428		2203	4300	6503	SO:0001819	synonymous_variant	6888				CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.546T>G	11.37:g.763428T>G			B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	CCDS7712.1																																																																																				0.607	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755	
DCDC1	341019	broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	30942461	30942461	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:30942461C>T	ENST00000406071.2	-	0	791				DCDC1_ENST00000597505.1_Missense_Mutation_p.S1052N|DCDC1_ENST00000339794.5_Missense_Mutation_p.S131N			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TACAATGTCACTTTGGACTTC	0.363																																						.											0													92.0	77.0	82.0					11																	30942461		2202	4298	6500			100506627			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-641G>A	11.37:g.30942461C>T			A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000406071.2	37		.	.	.	.	.	.	.	.	.	.	C	9.030	0.986955	0.18889	.	.	ENSG00000170959	ENST00000339794	.	.	.	5.32	4.41	0.53225	.	0.278041	0.31404	N	0.007703	T	0.39091	0.1065	M	0.68317	2.08	0.21782	N	0.999542	B	0.21452	0.056	B	0.15052	0.012	T	0.33752	-0.9856	9	0.07644	T	0.81	-7.9894	8.3524	0.32310	0.0:0.8213:0.0:0.1787	.	131	Q6ZRR9	DCDC5_HUMAN	N	131	.	ENSP00000341700:S131N	S	-	2	0	DCDC5	30899037	0.484000	0.25964	0.998000	0.56505	0.795000	0.44927	0.487000	0.22356	1.250000	0.43966	0.655000	0.94253	AGT		0.363	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807	
LRRC4C	57689	broad.mit.edu;mdanderson.org	37	11	40136544	40136544	+	Silent	SNP	C	C	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:40136544C>G	ENST00000278198.2	-	2	3262	c.1299G>C	c.(1297-1299)ggG>ggC	p.G433G	LRRC4C_ENST00000528697.1_Silent_p.G433G|LRRC4C_ENST00000530763.1_Silent_p.G433G|LRRC4C_ENST00000527150.1_Silent_p.G433G			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	433	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CAGTAGTATTCCCAACGGAAT	0.443																																						.											0													188.0	168.0	174.0					11																	40136544		2203	4300	6503	SO:0001819	synonymous_variant	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1299G>C	11.37:g.40136544C>G			A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	CCDS31464.1																																																																																				0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929	
PITPNM2	57605	broad.mit.edu	37	12	123481375	123481375	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:123481375T>G	ENST00000542749.1	-	10	1618	c.1555A>C	c.(1555-1557)Acc>Ccc	p.T519P	PITPNM2_ENST00000320201.4_Missense_Mutation_p.T519P|PITPNM2_ENST00000392428.1_Missense_Mutation_p.T240P|PITPNM2_ENST00000280562.5_Missense_Mutation_p.T519P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	519					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GGGGAGGAGGTGGCCAGCAGG	0.622																																						.											0													48.0	49.0	49.0					12																	123481375		2203	4300	6503	SO:0001583	missense	57605			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1555A>C	12.37:g.123481375T>G	ENSP00000437611:p.Thr519Pro		Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.616441	0.87359	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.20200	2.09;2.09;2.09;2.09	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.46132	0.1377	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.81914	0.947;0.995	T	0.49273	-0.8957	10	0.62326	D	0.03	-37.3047	14.1235	0.65205	0.0:0.0:0.0:1.0	.	519;519	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	P	519;519;240;519	ENSP00000280562:T519P;ENSP00000322218:T519P;ENSP00000376223:T240P;ENSP00000437611:T519P	ENSP00000280562:T519P	T	-	1	0	PITPNM2	122047328	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.252000	0.72447	1.750000	0.51863	0.254000	0.18369	ACC		0.622	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845	
BORA	79866	broad.mit.edu	37	13	73320117	73320117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr13:73320117delA	ENST00000390667.5	+	9	871	c.774delA	c.(772-774)gcafs	p.A258fs	BORA_ENST00000377815.3_Frame_Shift_Del_p.A188fs	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	258	Ser-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										AGGCTAGTGCAAAAAAATACA	0.383																																						.											0													103.0	98.0	100.0					13																	73320117		1807	4062	5869	SO:0001589	frameshift_variant	79866			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.774delA	13.37:g.73320117delA	ENSP00000375082:p.Ala258fs		B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Frame_Shift_Del	DEL	ENST00000390667.5	37	CCDS9446.1																																																																																				0.383	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808	
COL4A1	1282	broad.mit.edu;bcgsc.ca	37	13	110833715	110833715	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr13:110833715T>C	ENST00000375820.4	-	29	2238	c.2117A>G	c.(2116-2118)gAc>gGc	p.D706G		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	706	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGGCCCCATGTCTCCAGGTAA	0.493																																						.											0													41.0	40.0	41.0					13																	110833715		2203	4300	6503	SO:0001583	missense	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2117A>G	13.37:g.110833715T>C	ENSP00000364979:p.Asp706Gly		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	T	9.991	1.230828	0.22542	.	.	ENSG00000187498	ENST00000375820	D	0.93488	-3.23	4.86	3.69	0.42338	.	0.565133	0.18815	N	0.130417	D	0.89181	0.6642	L	0.43923	1.385	0.80722	D	1	P	0.50066	0.931	P	0.44359	0.447	D	0.85446	0.1158	10	0.22109	T	0.4	.	8.5381	0.33375	0.0:0.0:0.2674:0.7326	.	706	P02462	CO4A1_HUMAN	G	706	ENSP00000364979:D706G	ENSP00000364979:D706G	D	-	2	0	COL4A1	109631716	0.479000	0.25925	0.910000	0.35882	0.146000	0.21551	1.510000	0.35790	2.044000	0.60594	0.459000	0.35465	GAC		0.493	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3		
MGA	23269	broad.mit.edu;ucsc.edu;mdanderson.org	37	15	42034895	42034895	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr15:42034895A>G	ENST00000570161.1	+	14	4737	c.4737A>G	c.(4735-4737)acA>acG	p.T1579T	MGA_ENST00000389936.4_Silent_p.T1579T|MGA_ENST00000566586.1_Intron|MGA_ENST00000219905.7_Silent_p.T1579T|MGA_ENST00000545763.1_Intron			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGTCGTCACACCTGTGGTTT	0.502																																						.											0													71.0	73.0	72.0					15																	42034895		1986	4165	6151	SO:0001819	synonymous_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4737A>G	15.37:g.42034895A>G			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000570161.1	37	CCDS55959.1																																																																																				0.502	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
FBN1	2200	broad.mit.edu	37	15	48812976	48812976	+	Missense_Mutation	SNP	C	C	T	rs146726731		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr15:48812976C>T	ENST00000316623.5	-	10	1482	c.1027G>A	c.(1027-1029)Ggg>Agg	p.G343R		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	343	TB 2.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GAGCAGCGCCCGTTTGTCAGA	0.517													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19045	0.0		0.0	False		,,,				2504	0.0					.											0			GRCh37	CM067393	FBN1	M	rs146726731	C	ARG/GLY	0,4394		0,0,2197	77.0	67.0	70.0		1027	5.7	0.9	15	dbSNP_134	70	2,8590	2.2+/-6.3	0,2,4294	yes	missense	FBN1	NM_000138.4	125	0,2,6491	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	343/2872	48812976	2,12984	2197	4296	6493	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.1027G>A	15.37:g.48812976C>T	ENSP00000325527:p.Gly343Arg		B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	35	5.444036	0.96187	0.0	2.33E-4	ENSG00000166147	ENST00000316623	D	0.93426	-3.22	5.65	5.65	0.86999	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	M	0.81341	2.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96255	0.9186	10	0.52906	T	0.07	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	343	P35555	FBN1_HUMAN	R	343	ENSP00000325527:G343R	ENSP00000325527:G343R	G	-	1	0	FBN1	46600268	1.000000	0.71417	0.922000	0.36590	0.921000	0.55340	7.639000	0.83342	2.941000	0.99782	0.655000	0.94253	GGG		0.517	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
PDPR	55066	broad.mit.edu;mdanderson.org	37	16	70161181	70161181	+	Silent	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:70161181C>T	ENST00000288050.4	+	4	1203	c.246C>T	c.(244-246)acC>acT	p.T82T	PDPR_ENST00000398122.3_5'UTR|PDPR_ENST00000568530.1_Silent_p.T82T	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	82					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGGCTCTACCAGGTTCTGTG	0.463																																						.											0													35.0	32.0	33.0					16																	70161181		1826	4064	5890	SO:0001819	synonymous_variant	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.246C>T	16.37:g.70161181C>T			A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Silent	SNP	ENST00000288050.4	37	CCDS45520.1																																																																																				0.463	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434502.1	NM_017990	
GGNBP2	79893	broad.mit.edu	37	17	34942391	34942391	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr17:34942391A>G	ENST00000304718.4	+	11	1804	c.1488A>G	c.(1486-1488)gaA>gaG	p.E496E		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	496					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)		p.E496E(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATCATGATGAACACGGTAGGC	0.413																																						.											1	Substitution - coding silent(1)	endometrium(1)											172.0	175.0	174.0					17																	34942391		2203	4300	6503	SO:0001819	synonymous_variant	79893			AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.1488A>G	17.37:g.34942391A>G			B2RPK7|Q96T90|Q9GZR8|Q9H767	Silent	SNP	ENST00000304718.4	37	CCDS11314.1																																																																																				0.413	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835	
ZNF98	148198	broad.mit.edu;mdanderson.org	37	19	22575373	22575373	+	Missense_Mutation	SNP	C	C	T	rs201074450		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:22575373C>T	ENST00000357774.5	-	4	785	c.664G>A	c.(664-666)Gcc>Acc	p.A222T		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGGTTTGAGGCCTCATTATAG	0.383																																						.											0													12.0	13.0	13.0					19																	22575373		1871	4124	5995	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.664G>A	19.37:g.22575373C>T	ENSP00000350418:p.Ala222Thr			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	4.784	0.145770	0.09134	.	.	ENSG00000197360	ENST00000357774	T	0.33654	1.4	1.28	-1.83	0.07833	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.18002	0.0432	N	0.17674	0.51	0.09310	N	1	B	0.22541	0.071	B	0.25987	0.065	T	0.27262	-1.0079	9	0.39692	T	0.17	.	0.0814	0.00032	0.2369:0.2268:0.2367:0.2996	.	222	A6NK75	ZNF98_HUMAN	T	222	ENSP00000350418:A222T	ENSP00000350418:A222T	A	-	1	0	ZNF98	22367213	0.000000	0.05858	0.001000	0.08648	0.138000	0.21146	-0.793000	0.04589	-0.223000	0.09943	0.305000	0.20034	GCC		0.383	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
FBXO17	115290	broad.mit.edu	37	19	39440795	39440795	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:39440795delC	ENST00000292852.4	-	2	506	c.165delG	c.(163-165)gggfs	p.G55fs	FBXO17_ENST00000595329.1_Frame_Shift_Del_p.G55fs|SARS2_ENST00000448145.2_5'Flank|CTC-360G5.8_ENST00000599996.1_5'Flank	NM_024907.5	NP_079183.4	Q96EF6	FBX17_HUMAN	F-box protein 17	55	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACACAGTGGGCCCGTCCACTA	0.711																																						.											0													7.0	6.0	6.0					19																	39440795		2045	4039	6084	SO:0001589	frameshift_variant	115290			AF386743	CCDS12526.1	19q13.2	2010-07-02	2004-06-15	2004-06-16		ENSG00000269190		"""F-boxes /  ""other"""""	18754	protein-coding gene	gene with protein product	"""F-box only protein 26"""	609094	"""F-box only protein 17"""	FBXO26			Standard	NM_148169		Approved	FBG4, FLJ25205, MGC9379, FLJ11798, Fbx17		Q96EF6		ENST00000292852.4:c.165delG	19.37:g.39440795delC	ENSP00000292852:p.Gly55fs		Q96LQ4	Frame_Shift_Del	DEL	ENST00000292852.4	37	CCDS12526.1																																																																																				0.711	FBXO17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463273.1	NM_024907	
NCKAP1	10787	broad.mit.edu	37	2	183791547	183791547	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:183791547A>G	ENST00000361354.4	-	30	3639	c.3267T>C	c.(3265-3267)gaT>gaC	p.D1089D	NCKAP1_ENST00000360982.2_Silent_p.D1095D|NCKAP1_ENST00000478449.1_5'Flank	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	1089					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GACTTACCATATCTAGCAGTA	0.318																																						.											0													83.0	82.0	82.0					2																	183791547		2202	4297	6499	SO:0001819	synonymous_variant	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.3267T>C	2.37:g.183791547A>G			O60329|Q53QN5|Q53S94|Q53Y35	Silent	SNP	ENST00000361354.4	37	CCDS2287.1																																																																																				0.318	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255867.2	NM_205842	
PAX3	5077	broad.mit.edu	37	2	223066834	223066834	+	Missense_Mutation	SNP	C	C	T	rs528350431		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:223066834C>T	ENST00000350526.4	-	8	1385	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PAX3_ENST00000392070.2_Missense_Mutation_p.G417R|PAX3_ENST00000392069.2_Missense_Mutation_p.G417R|PAX3_ENST00000409551.3_Missense_Mutation_p.G416R|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron|PAX3_ENST00000464706.1_5'UTR	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	417					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGACCCCCGGTGAGAGGG	0.557			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						C|||	1	0.000199681	0.0008	0.0	5008	,	,		17596	0.0		0.0	False		,,,				2504	0.0					.		Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0													78.0	74.0	75.0					2																	223066834		2203	4300	6503	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1249G>A	2.37:g.223066834C>T	ENSP00000343052:p.Gly417Arg		G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.859852	0.91433	.	.	ENSG00000135903	ENST00000392069;ENST00000350526;ENST00000392070;ENST00000409551;ENST00000464706	D;D;D;D	0.94758	-3.39;-3.43;-3.5;-3.51	5.81	5.81	0.92471	.	0.051938	0.85682	D	0.000000	D	0.96423	0.8833	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.999	D;P;D	0.69142	0.962;0.851;0.929	D	0.95648	0.8704	10	0.45353	T	0.12	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	417;416;417	P23760;Q494Z4;G5E9C1	PAX3_HUMAN;.;.	R	417;417;417;416;134	ENSP00000375921:G417R;ENSP00000343052:G417R;ENSP00000375922:G417R;ENSP00000386750:G416R	ENSP00000343052:G417R	G	-	1	0	PAX3	222775078	1.000000	0.71417	0.967000	0.41034	0.931000	0.56810	4.500000	0.60387	2.736000	0.93811	0.655000	0.94253	GGG		0.557	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
ACTR8	93973	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	3	53914090	53914090	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:53914090G>T	ENST00000335754.3	-	2	270	c.170C>A	c.(169-171)aCt>aAt	p.T57N	ACTR8_ENST00000482349.1_5'UTR|AC012467.1_ENST00000410956.1_RNA|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	57					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		AATCCTTAAAGTTGTTGAACC	0.428																																						.											0													179.0	168.0	172.0					3																	53914090		2203	4300	6503	SO:0001583	missense	93973				CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.170C>A	3.37:g.53914090G>T	ENSP00000336842:p.Thr57Asn		B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541648	0.45280	.	.	ENSG00000113812	ENST00000335754	D	0.94793	-3.52	6.02	6.02	0.97574	.	0.052061	0.85682	D	0.000000	D	0.87297	0.6142	N	0.05078	-0.115	0.80722	D	1	B	0.14012	0.009	B	0.12156	0.007	T	0.82317	-0.0517	10	0.15066	T	0.55	-2.1464	18.3137	0.90210	0.0:0.0:1.0:0.0	.	57	Q9H981	ARP8_HUMAN	N	57	ENSP00000336842:T57N	ENSP00000336842:T57N	T	-	2	0	ACTR8	53889130	1.000000	0.71417	0.956000	0.39512	0.989000	0.77384	4.786000	0.62425	2.865000	0.98341	0.655000	0.94253	ACT		0.428	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899	
EHMT2	10919	broad.mit.edu;mdanderson.org;bcgsc.ca	37	6	31848534	31848534	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:31848534C>A	ENST00000375537.4	-	27	3374	c.3368G>T	c.(3367-3369)cGg>cTg	p.R1123L	SLC44A4_ENST00000465707.1_5'Flank|EHMT2_ENST00000375530.4_Missense_Mutation_p.R1089L|SLC44A4_ENST00000375562.4_5'Flank|EHMT2_ENST00000395728.3_Missense_Mutation_p.R1180L|EHMT2_ENST00000480912.1_5'UTR|SLC44A4_ENST00000229729.6_5'Flank|EHMT2_ENST00000375528.4_Missense_Mutation_p.R1146L	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1123	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CATGAAGACCCGGACGGGAAT	0.567																																						.											0													169.0	131.0	144.0					6																	31848534		2203	4300	6503	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3368G>T	6.37:g.31848534C>A	ENSP00000364687:p.Arg1123Leu		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217511	0.79352	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	4.21	4.21	0.49690	SET domain (3);	0.000000	0.64402	D	0.000001	D	0.86053	0.5841	M	0.69358	2.11	0.80722	D	1	P;P;D;D	0.76494	0.683;0.75;0.995;0.999	B;P;P;D	0.72982	0.308;0.515;0.738;0.979	D	0.87823	0.2639	10	0.87932	D	0	.	15.8428	0.78864	0.0:1.0:0.0:0.0	.	1146;1089;1123;944	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	L	1180;1146;1089;1123;944	ENSP00000379078:R1180L;ENSP00000364678:R1146L;ENSP00000364680:R1089L;ENSP00000364687:R1123L	ENSP00000364678:R1146L	R	-	2	0	EHMT2	31956513	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.194000	0.77789	2.355000	0.79922	0.561000	0.74099	CGG		0.567	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
SENP6	26054	broad.mit.edu	37	6	76386858	76386858	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:76386858delT	ENST00000447266.2	+	14	2212	c.1734delT	c.(1732-1734)aatfs	p.N578fs	SENP6_ENST00000370014.3_Frame_Shift_Del_p.N578fs|SENP6_ENST00000541192.1_Frame_Shift_Del_p.N174fs|SENP6_ENST00000370010.2_Frame_Shift_Del_p.N571fs|SENP6_ENST00000327284.8_Frame_Shift_Del_p.N571fs	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	578					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACATCTCCAATTTTTTTGCGA	0.328																																						.											0													34.0	33.0	33.0					6																	76386858		1807	4066	5873	SO:0001589	frameshift_variant	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1734delT	6.37:g.76386858delT	ENSP00000402527:p.Asn578fs		A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Frame_Shift_Del	DEL	ENST00000447266.2	37	CCDS47454.1																																																																																				0.328	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2	NM_015571	
PCLO	27445	broad.mit.edu	37	7	82579183	82579183	+	Missense_Mutation	SNP	T	T	C	rs201013392		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr7:82579183T>C	ENST00000333891.9	-	6	11058	c.10721A>G	c.(10720-10722)gAc>gGc	p.D3574G	PCLO_ENST00000423517.2_Missense_Mutation_p.D3574G|PCLO_ENST00000437081.1_Missense_Mutation_p.D294G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTTGTGTGTCTGAATCTGC	0.443																																						.											0								T	GLY/ASP,GLY/ASP	0,4076		0,0,2038	190.0	183.0	185.0		10721,10721	5.7	1.0	7		185	2,8374		0,2,4186	yes	missense,missense	PCLO	NM_014510.2,NM_033026.5	94,94	0,2,6224	CC,CT,TT		0.0239,0.0,0.0161	probably-damaging,probably-damaging	3574/4936,3574/5143	82579183	2,12450	2038	4188	6226	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.10721A>G	7.37:g.82579183T>C	ENSP00000334319:p.Asp3574Gly			Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878485	0.33162	0.0	2.39E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.17528	2.29;2.27	5.72	5.72	0.89469	.	.	.	.	.	T	0.35770	0.0943	L	0.50333	1.59	0.51012	D	0.999901	B;D;D	0.63046	0.2;0.992;0.992	B;D;D	0.65233	0.161;0.933;0.933	T	0.05338	-1.0891	9	0.87932	D	0	.	16.007	0.80370	0.0:0.0:0.0:1.0	.	3505;3574;3574	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	G	3505;3574;3574;294	ENSP00000334319:D3574G;ENSP00000388393:D3574G	ENSP00000334319:D3574G	D	-	2	0	PCLO	82417119	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.779000	0.85648	2.182000	0.69389	0.533000	0.62120	GAC		0.443	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
RB1CC1	9821	broad.mit.edu	37	8	53586752	53586752	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:53586752T>C	ENST00000025008.5	-	7	1178	c.655A>G	c.(655-657)Aga>Gga	p.R219G	RB1CC1_ENST00000435644.2_Missense_Mutation_p.R219G|RB1CC1_ENST00000539297.1_Missense_Mutation_p.R219G|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	219					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GAATCCAGTCTTCCCAAACAT	0.403																																					GBM(180;1701 2102 13475 42023 52570)	.											0													184.0	177.0	179.0					8																	53586752		2203	4300	6503	SO:0001583	missense	9821			AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.655A>G	8.37:g.53586752T>C	ENSP00000025008:p.Arg219Gly		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683988	0.68157	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15834	2.39;2.39;2.39	5.36	5.36	0.76844	.	0.065424	0.64402	D	0.000004	T	0.23727	0.0574	L	0.38175	1.15	0.50039	D	0.999845	P;P	0.52316	0.952;0.919	P;P	0.53360	0.724;0.534	T	0.00792	-1.1564	10	0.62326	D	0.03	-19.8011	12.2052	0.54348	0.0:0.0:0.1423:0.8577	.	219;219	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	G	219	ENSP00000025008:R219G;ENSP00000396067:R219G;ENSP00000445960:R219G	ENSP00000025008:R219G	R	-	1	2	RB1CC1	53749305	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.830000	0.55768	2.151000	0.67156	0.383000	0.25322	AGA		0.403	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1	NM_014781	
SYBU	55638	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	110587964	110587964	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:110587964A>T	ENST00000422135.1	-	8	1678	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q	SYBU_ENST00000408908.2_Missense_Mutation_p.L388Q|SYBU_ENST00000528647.1_Missense_Mutation_p.L387Q|SYBU_ENST00000446070.2_Missense_Mutation_p.L387Q|SYBU_ENST00000533171.1_Missense_Mutation_p.L388Q|SYBU_ENST00000533065.1_Missense_Mutation_p.L269Q|SYBU_ENST00000433638.1_Missense_Mutation_p.L388Q|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000440310.1_Missense_Mutation_p.L388Q|SYBU_ENST00000532779.1_Missense_Mutation_p.L320Q|SYBU_ENST00000399066.3_Missense_Mutation_p.L385Q|SYBU_ENST00000276646.9_Missense_Mutation_p.L388Q|SYBU_ENST00000424158.2_Missense_Mutation_p.L393Q|SYBU_ENST00000529690.1_Missense_Mutation_p.L258Q|SYBU_ENST00000529175.1_Missense_Mutation_p.L182Q|SYBU_ENST00000419099.1_Missense_Mutation_p.L387Q|SYBU_ENST00000528331.1_Missense_Mutation_p.L269Q|SYBU_ENST00000533895.1_Missense_Mutation_p.L387Q|SYBU_ENST00000408889.3_Missense_Mutation_p.L269Q	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	388	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						GTCTAGGCACAGTTCGTCCCT	0.483																																						.											0													74.0	79.0	77.0					8																	110587964		1982	4165	6147	SO:0001583	missense	55638			AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.1163T>A	8.37:g.110587964A>T	ENSP00000407118:p.Leu388Gln		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.378544	0.24944	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000529175;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171	.	.	.	5.89	4.62	0.57501	.	0.488467	0.22308	N	0.061771	T	0.34919	0.0914	L	0.41824	1.3	0.32015	N	0.601572	B;B;B;B;B	0.20052	0.041;0.041;0.016;0.041;0.041	B;B;B;B;B	0.16722	0.011;0.016;0.015;0.011;0.011	T	0.35968	-0.9767	9	0.38643	T	0.18	-16.3088	6.0956	0.20019	0.7296:0.0:0.0841:0.1863	.	258;320;387;388;385	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	Q	387;393;320;385;387;269;182;388;387;388;387;388;388;388;269;269;258;388	.	ENSP00000276646:L388Q	L	-	2	0	SYBU	110657140	0.868000	0.29978	1.000000	0.80357	0.898000	0.52572	1.700000	0.37815	2.251000	0.74343	0.482000	0.46254	CTG		0.483	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786	
RAPGEF1	2889	broad.mit.edu;bcgsc.ca	37	9	134504010	134504010	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:134504010T>C	ENST00000372189.3	-	8	1015	c.892A>G	c.(892-894)Acc>Gcc	p.T298A	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T316A|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.T315A	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	298					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCCACTCGGGTAGGGGACGGC	0.587																																						.											0													51.0	55.0	54.0					9																	134504010		1946	4146	6092	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.892A>G	9.37:g.134504010T>C	ENSP00000361263:p.Thr298Ala		Q5JUE4|Q8IV73	Missense_Mutation	SNP	ENST00000372189.3	37	CCDS48047.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437067	0.83885	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000357686	T;T;T	0.47869	0.83;0.83;0.83	5.0	5.0	0.66597	.	0.204155	0.50627	D	0.000108	T	0.59742	0.2216	M	0.64997	1.995	0.53688	D	0.999979	D;D;D	0.61080	0.982;0.964;0.989	P;P;P	0.60949	0.764;0.764;0.881	T	0.56498	-0.7969	10	0.20046	T	0.44	.	13.8882	0.63721	0.0:0.0:0.0:1.0	.	315;298;316	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	A	298;315;192;298;316;278;224;315	ENSP00000361269:T315A;ENSP00000361263:T298A;ENSP00000361264:T316A	ENSP00000266110:T298A	T	-	1	0	RAPGEF1	133493831	1.000000	0.71417	0.943000	0.38184	0.944000	0.59088	5.628000	0.67791	1.873000	0.54277	0.379000	0.24179	ACC		0.587	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312	
RASA1	5921	broad.mit.edu	37	5	86564705	86564706	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr5:86564705_86564706insG	ENST00000274376.6	+	1	1001_1002	c.437_438insG	c.(436-441)ttggggfs	p.LG146fs	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	146					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.L146S(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCCCTTTGGGGGCGGGCC	0.624																																						.											1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.442dupG	5.37:g.86564710_86564710dupG	ENSP00000274376:p.Leu146fs		B2R6W3|Q9UDI1	Frame_Shift_Ins	INS	ENST00000274376.6	37	CCDS34200.1																																																																																				0.624	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890	
BPTF	2186	ucsc.edu	37	17	65955758	65955758	+	Silent	SNP	T	T	C	rs139709271|rs202116659		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr17:65955758T>C	ENST00000321892.4	+	26	8467	c.8406T>C	c.(8404-8406)gcT>gcC	p.A2802A	BPTF_ENST00000424123.3_Silent_p.A2520A|BPTF_ENST00000335221.5_Silent_p.A2659A|BPTF_ENST00000306378.6_Silent_p.A2676A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2802	Pro-rich.			AP -> VL (in Ref. 1; BAA89208). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.A2676A(1)|p.A2659A(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGACAccagctcctccagccc	0.582																																						.											2	Substitution - coding silent(2)	large_intestine(2)											40.0	33.0	36.0					17																	65955758		2203	4300	6503	SO:0001819	synonymous_variant	2186			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.8406T>C	17.37:g.65955758T>C			Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37																																																																																					0.582	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
HAVCR1	26762	ucsc.edu	37	5	156479572	156479572	+	Missense_Mutation	SNP	A	A	G	rs6149307|rs386693994|rs2862716|rs141023871	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr5:156479572A>G	ENST00000339252.3	-	3	1005	c.473T>C	c.(472-474)aTg>aCg	p.M158T	HAVCR1_ENST00000544197.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000522693.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000425854.1_Missense_Mutation_p.M158T|HAVCR1_ENST00000523175.1_Missense_Mutation_p.M158T	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AACAGTCGTCATTGGAACAGT	0.488																																						.											0													415.0	305.0	343.0					5																	156479572		2083	3969	6052	SO:0001583	missense	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.473T>C	5.37:g.156479572A>G	ENSP00000344844:p.Met158Thr		O43656	Missense_Mutation	SNP	ENST00000339252.3	37	CCDS43392.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.643576	0.00111	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197;ENST00000518745	T;T;T;T;T;T	0.13196	2.61;2.65;2.65;2.61;2.65;2.67	1.56	-3.12	0.05282	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.35201	-0.9798	7	0.02654	T	1	.	1.0652	0.01609	0.1371:0.2458:0.3087:0.3084	rs2862716	.	.	.	T	158	ENSP00000428524:M158T;ENSP00000427898:M158T;ENSP00000344844:M158T;ENSP00000403333:M158T;ENSP00000440258:M158T;ENSP00000428422:M158T	ENSP00000344844:M158T	M	-	2	0	HAVCR1	156412150	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.922000	0.28734	-2.668000	0.00415	-0.551000	0.04211	ATG		0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1		
IST1	9798	ucsc.edu;mdanderson.org	37	16	71956529	71956529	+	Silent	SNP	C	C	T	rs28701631	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:71956529C>T	ENST00000378799.6	+	7	1061	c.705C>T	c.(703-705)ccC>ccT	p.P235P	IST1_ENST00000541571.2_Silent_p.P235P|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000538850.1_Silent_p.P87P|IST1_ENST00000378798.5_Silent_p.P235P|IST1_ENST00000606369.1_Silent_p.P87P|IST1_ENST00000538565.1_3'UTR|IST1_ENST00000329908.8_Silent_p.P235P|IST1_ENST00000544564.1_Silent_p.P235P|IST1_ENST00000535424.1_Silent_p.P248P			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	233	Interaction with VPS37B.|Interaction with VTA1.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										tgcccatgcccatgcctatgc	0.483													C|||	230	0.0459265	0.0197	0.0274	5008	,	,		18639	0.0258		0.0427	False		,,,				2504	0.1186					.											0													101.0	73.0	83.0					16																	71956529		2198	4300	6498	SO:0001819	synonymous_variant	9798			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.705C>T	16.37:g.71956529C>T			A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Silent	SNP	ENST00000378799.6	37	CCDS59272.1	58	0.026556776556776556	9	0.018292682926829267	10	0.027624309392265192	25	0.043706293706293704	14	0.018469656992084433	C	6.629	0.484439	0.12641	.	.	ENSG00000182149	ENST00000541848	.	.	.	.	.	.	.	0.095345	0.85682	D	0.000000	T	0.22551	0.0544	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.12967	-1.0527	4	0.26408	T	0.33	-5.2082	.	.	.	rs28701631	.	.	.	L	122	.	ENSP00000437499:P122L	P	+	2	0	KIAA0174	70514030	0.004000	0.15560	0.997000	0.53966	0.971000	0.66376	-3.311000	0.00517	0.361000	0.24292	0.366000	0.22137	CCA		0.483	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761	
JAK2	3717	ucsc.edu	37	9	5073722	5073722	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:5073722A>G	ENST00000381652.3	+	14	2295	c.1801A>G	c.(1801-1803)Atg>Gtg	p.M601V	JAK2_ENST00000539801.1_Missense_Mutation_p.M601V|JAK2_ENST00000544510.1_Missense_Mutation_p.M452V	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	601	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGCAAGTATGATGAGCAAGCT	0.353		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													.		Dom	yes		9	9p24	3717	Janus kinase 2		L	0													110.0	122.0	118.0					9																	5073722		2203	4299	6502	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1801A>G	9.37:g.5073722A>G	ENSP00000371067:p.Met601Val		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.401142	0.83120	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	D;D;D	0.86030	-2.06;-2.06;-2.06	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86653	0.5984	L	0.58428	1.81	0.80722	D	1	P	0.49961	0.93	P	0.48425	0.577	D	0.88353	0.2982	10	0.87932	D	0	-21.4242	15.6147	0.76756	1.0:0.0:0.0:0.0	.	601	O60674	JAK2_HUMAN	V	601;601;452	ENSP00000440387:M601V;ENSP00000371067:M601V;ENSP00000443103:M452V	ENSP00000371067:M601V	M	+	1	0	JAK2	5063722	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.880000	0.92407	2.088000	0.63022	0.482000	0.46254	ATG		0.353	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
ODF1	4956	ucsc.edu;mdanderson.org	37	8	103573033	103573033	+	Missense_Mutation	SNP	A	A	G	rs143802899|rs568456031|rs377699584|rs62523272|rs386728348|rs58232162	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:103573033A>G	ENST00000285402.3	+	2	830	c.674A>G	c.(673-675)aAc>aGc	p.N225S	ODF1_ENST00000518835.1_Missense_Mutation_p.N18S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	225	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			agcccctgcaacccgtgcagc	0.557																																						.											1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											63.0	60.0	61.0					8																	103573033		2183	4220	6403	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.674A>G	8.37:g.103573033A>G	ENSP00000285402:p.Asn225Ser		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	217	0.09935897435897435	29	0.05894308943089431	49	0.13535911602209943	79	0.1381118881118881	60	0.079155672823219	G	0.005	-2.144154	0.00332	.	.	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.85088	-1.94;2.08	5.44	-0.902	0.10537	.	0.544159	0.18593	N	0.136697	T	0.01124	0.0037	L	0.38175	1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.04930	-1.0917	10	0.02654	T	1	-14.2311	6.4233	0.21756	0.4671:0.128:0.4049:0.0	rs62523272	225	Q14990	ODFP1_HUMAN	S	225;18	ENSP00000285402:N225S;ENSP00000430023:N18S	ENSP00000285402:N225S	N	+	2	0	ODF1	103642209	0.011000	0.17503	0.007000	0.13788	0.007000	0.05969	0.064000	0.14437	-0.321000	0.08627	-0.128000	0.14901	AAC		0.557	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		
PRAMEF4	400735	ucsc.edu;mdanderson.org	37	1	12939904	12939904	+	Missense_Mutation	SNP	A	A	C	rs3895133		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:12939904A>C	ENST00000235349.5	-	4	968	c.898T>G	c.(898-900)Ttc>Gtc	p.F300V		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	300					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTGAGGAACTTTAACGAG	0.483																																						.											0													50.0	69.0	62.0					1																	12939904		1404	2644	4048	SO:0001583	missense	400735				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.898T>G	1.37:g.12939904A>C	ENSP00000235349:p.Phe300Val		Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	t	1.416	-0.574302	0.03882	.	.	ENSG00000243073	ENST00000235349	T	0.38887	1.11	1.48	-2.96	0.05547	.	1.221790	0.05721	N	0.597800	T	0.18759	0.0450	N	0.04132	-0.27	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09207	-1.0685	10	0.37606	T	0.19	.	3.305	0.06997	0.5711:0.149:0.0:0.2799	.	300	O60810	PRAM4_HUMAN	V	300	ENSP00000235349:F300V	ENSP00000235349:F300V	F	-	1	0	PRAMEF4	12862491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.518000	0.02246	-3.281000	0.00197	-4.216000	0.00009	TTC		0.483	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611	
TMPRSS13	84000	ucsc.edu;mdanderson.org	37	11	117789317	117789317	+	Silent	SNP	T	T	C	rs201746372|rs58754377|rs201369736		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:117789317T>C	ENST00000430170.2	-	2	345	c.258A>G	c.(256-258)ccA>ccG	p.P86P	TMPRSS13_ENST00000526090.1_Silent_p.P86P|TMPRSS13_ENST00000445164.2_Silent_p.P86P|TMPRSS13_ENST00000524993.1_Silent_p.P86P|TMPRSS13_ENST00000528626.1_Silent_p.P86P	NM_001244995.1	NP_001231924.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	86	13 X 5 AA repeats of A-S-P-A-[GLQR].|Ala-rich.					blood microparticle (GO:0072562)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.Q83_A87delQASPA(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		ATGCCCGGGCTGGAGATGCCT	0.652																																						.											1	Deletion - In frame(1)	urinary_tract(1)											34.0	41.0	38.0					11																	117789317		1955	4135	6090	SO:0001819	synonymous_variant	84000			AB048796	CCDS41721.1, CCDS55788.1, CCDS55789.1, CCDS58185.1	11q23	2010-04-13	2005-03-11	2005-03-12	ENSG00000137747	ENSG00000137747		"""Serine peptidases / Transmembrane"""	29808	protein-coding gene	gene with protein product		610050	"""transmembrane protease, serine 11"""	TMPRSS11		11267681	Standard	NM_001077263		Approved	MSPL	uc001prs.2	Q9BYE2	OTTHUMG00000166992	ENST00000430170.2:c.258A>G	11.37:g.117789317T>C			B4DTM9|E9PIJ5|F8WAJ3|Q86YM4|Q96JY8|Q9BYE1	Silent	SNP	ENST00000430170.2	37	CCDS58185.1																																																																																				0.652	TMPRSS13-006	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000392318.1	NM_032046	
TTBK1	84630	ucsc.edu;bcgsc.ca	37	6	43230987	43230987	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:43230987A>G	ENST00000259750.4	+	13	1968	c.1885A>G	c.(1885-1887)Acg>Gcg	p.T629A	TTBK1_ENST00000304139.5_Missense_Mutation_p.T578A	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	629					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCGTTCCGAGACGTCACAGCC	0.716																																						.											0													13.0	13.0	13.0					6																	43230987		2172	4263	6435	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1885A>G	6.37:g.43230987A>G	ENSP00000259750:p.Thr629Ala		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	A	8.995	0.978679	0.18812	.	.	ENSG00000146216	ENST00000259750	T	0.26373	1.74	5.03	2.44	0.29823	.	0.606227	0.16970	N	0.192123	T	0.02610	0.0079	N	0.08118	0	0.80722	D	1	P;B	0.37500	0.597;0.062	B;B	0.31614	0.133;0.017	T	0.25467	-1.0131	10	0.05721	T	0.95	.	7.0043	0.24828	0.7468:0.1613:0.0919:0.0	.	152;629	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	A	629	ENSP00000259750:T629A	ENSP00000259750:T629A	T	+	1	0	TTBK1	43338965	0.863000	0.29885	0.934000	0.37439	0.385000	0.30292	0.798000	0.27014	0.765000	0.33221	0.460000	0.39030	ACG		0.716	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3		
WDR59	79726	ucsc.edu	37	16	74942865	74942865	+	Silent	SNP	T	T	C	rs141093453	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr16:74942865T>C	ENST00000262144.6	-	17	1783	c.1653A>G	c.(1651-1653)gtA>gtG	p.V551V		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	551										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAAATATACCAGGTAAC	0.547																																						.											0													90.0	79.0	83.0					16																	74942865		2198	4300	6498	SO:0001819	synonymous_variant	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1653A>G	16.37:g.74942865T>C			B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Silent	SNP	ENST00000262144.6	37	CCDS32488.1																																																																																				0.547	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	
ANKRD20A5P	440482	mdanderson.org	37	18	14184079	14184079	+	RNA	SNP	A	A	C	rs3897592		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr18:14184079A>C	ENST00000581935.1	+	0	768							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						TTCCATGGTGAAAATATTGAA	0.368																																						.											0													104.0	113.0	110.0					18																	14184079		2202	4299	6501			440482			BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184079A>C			Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																					0.368	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1		
BDNF	627	mdanderson.org	37	11	27681199	27681199	+	5'UTR	SNP	C	C	T	rs200712840|rs4030469|rs202011320	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:27681199C>T	ENST00000525528.1	-	0	6				BDNF_ENST00000532997.1_Intron|BDNF_ENST00000418212.1_Intron|BDNF_ENST00000395983.3_Intron|BDNF_ENST00000395978.3_Intron|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000533246.1_Intron|BDNF_ENST00000420794.1_Intron|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000395980.2_Intron|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000438929.1_Intron|BDNF_ENST00000314915.6_Intron|BDNF_ENST00000356660.4_Intron|BDNF_ENST00000584049.1_Intron|BDNF_ENST00000533131.1_Intron|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395986.2_Intron|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000439476.2_5'UTR|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000525950.1_Intron|BDNF_ENST00000395981.3_Intron|BDNF_ENST00000530861.1_Intron	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						tgtgtgtgcgcgcgcgcgtgt	0.433													T|||	1306	0.260783	0.3132	0.2781	5008	,	,		15160	0.38		0.17	False		,,,				2504	0.1483					.											0																																										SO:0001623	5_prime_UTR_variant	497258			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.-1088G>A	11.37:g.27681199C>T			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	RNA	SNP	ENST00000525528.1	37	CCDS7866.1																																																																																				0.433	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388135.1	NM_170735	
DDX12P	440081	mdanderson.org	37	12	9574020	9574020	+	IGR	SNP	T	T	C	rs200847155		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:9574020T>C								RP13-735L24.1 (23807 upstream) : SNORA75 (23633 downstream)														p.L672L(1)									ACGTGAATTCTAGCGGCTGGT	0.597																																						.											1	Substitution - coding silent(1)	endometrium(1)											53.0	57.0	55.0					12																	9574020		692	1591	2283	SO:0001628	intergenic_variant	440081																															12.37:g.9574020T>C				RNA	SNP		37																																																																																				0	0.597								
EIF4G1	1981	mdanderson.org	37	3	184039769	184039770	+	Missense_Mutation	DNP	GA	GA	AG	rs111659103|rs398102387		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:184039769_184039770GA>AG	ENST00000346169.2	+	10	1668_1669	c.1397_1398GA>AG	c.(1396-1398)gGA>gAG	p.G466E	EIF4G1_ENST00000342981.4_Missense_Mutation_p.G466E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G473E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G473E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G379E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G270E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G302E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G466E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G270E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G302E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G426E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G379E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	466	Poly-Glu.		Missing. {ECO:0000269|PubMed:21907011}.		cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			gaggaagaaggagaagcaggag	0.55																																						.											0																																										SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	Exception_encountered	3.37:g.184039769_184039770delinsAG	ENSP00000316879:p.Gly466Glu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	DNP	ENST00000346169.2	37	CCDS3259.1																																																																																				0.550	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
EIF4G1	1981	mdanderson.org	37	3	184039775	184039775	+	Missense_Mutation	SNP	C	C	A	rs200221361|rs111659103|rs398102387		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:184039775C>A	ENST00000346169.2	+	10	1674	c.1403C>A	c.(1402-1404)gCa>gAa	p.A468E	EIF4G1_ENST00000342981.4_Missense_Mutation_p.A468E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.A475E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.A475E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.A475E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.A381E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.A272E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.A428E|EIF4G1_ENST00000350481.5_Missense_Mutation_p.A304E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.A468E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.A272E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.A304E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.A428E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.A381E	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	468			Missing. {ECO:0000269|PubMed:21907011}.	A -> V (in Ref. 1; BAA02185). {ECO:0000305}.	cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			gaaggagaagcaggagaagca	0.537																																						.											0													61.0	62.0	61.0					3																	184039775		2203	4300	6503	SO:0001583	missense	1981			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1403C>A	3.37:g.184039775C>A	ENSP00000316879:p.Ala468Glu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.934063	0.00053	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.62105	0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;0.05;1.68;0.05	0.321	0.321	0.15883	.	0.503112	0.18663	N	0.134661	T	0.24967	0.0606	N	0.02011	-0.69	0.09310	N	0.999996	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.33394	-0.9870	9	0.02654	T	1	.	.	.	.	.	475;468;468;475	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	E	468;428;381;468;475;475;409;304;475;381;468;468;475;428;304;304;272;272;272	ENSP00000316879:A468E;ENSP00000391935:A428E;ENSP00000376320:A381E;ENSP00000391412:A468E;ENSP00000413159:A475E;ENSP00000371767:A475E;ENSP00000403269:A409E;ENSP00000317600:A304E;ENSP00000338020:A475E;ENSP00000407682:A381E;ENSP00000343450:A468E;ENSP00000323737:A468E;ENSP00000416255:A475E;ENSP00000395974:A428E;ENSP00000398145:A304E;ENSP00000399858:A304E;ENSP00000411826:A272E;ENSP00000399969:A272E;ENSP00000404754:A272E	ENSP00000323737:A468E	A	+	2	0	EIF4G1	185522469	0.645000	0.27286	0.810000	0.32431	0.154000	0.21943	0.330000	0.19715	0.428000	0.26173	0.121000	0.15741	GCA		0.537	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
FAM118A	55007	mdanderson.org	37	22	45723898	45723898	+	Missense_Mutation	SNP	G	G	A	rs62001863	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr22:45723898G>A	ENST00000216214.3	+	5	1310	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	FAM118A_ENST00000405673.1_Missense_Mutation_p.R159Q|FAM118A_ENST00000441876.2_Missense_Mutation_p.R159Q|FAM118A_ENST00000405548.3_5'Flank	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	159						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TTTGGCCGGCGGCAGAACAAG	0.627																																						.											0													21.0	19.0	20.0					22																	45723898		2203	4300	6503	SO:0001583	missense	55007			BC013696	CCDS14065.1	22q13.3	2006-04-26	2006-04-26	2006-04-26	ENSG00000100376	ENSG00000100376			1313	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 8"""	C22orf8		12477932	Standard	NM_001104595		Approved	FLJ20635, bK268H5.C22.4	uc003bga.4	Q9NWS6	OTTHUMG00000151338	ENST00000216214.3:c.476G>A	22.37:g.45723898G>A	ENSP00000216214:p.Arg159Gln		B3KWG4|B4DY02|Q5TII5|Q96CY3	Missense_Mutation	SNP	ENST00000216214.3	37	CCDS14065.1	32	0.014652014652014652	0	0.0	8	0.022099447513812154	4	0.006993006993006993	20	0.026385224274406333	A	2.466	-0.322915	0.05350	.	.	ENSG00000100376	ENST00000216214;ENST00000441876;ENST00000405673	T;T;T	0.39997	1.05;1.05;1.06	5.03	2.76	0.32466	.	0.061927	0.64402	N	0.000004	T	0.05686	0.0149	N	0.04959	-0.14	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.07790	-1.0754	10	0.09338	T	0.73	-1.1554	6.502	0.22174	0.7238:0.1301:0.1461:0.0	rs62001863	159	Q9NWS6	F118A_HUMAN	Q	159	ENSP00000216214:R159Q;ENSP00000395892:R159Q;ENSP00000385231:R159Q	ENSP00000216214:R159Q	R	+	2	0	FAM118A	44102562	1.000000	0.71417	0.991000	0.47740	0.252000	0.25951	5.600000	0.67599	0.241000	0.21283	-0.524000	0.04348	CGG		0.627	FAM118A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322260.1	NM_017911	
FAM157B	100132403	mdanderson.org	37	9	141107548	141107548	+	lincRNA	SNP	A	A	G	rs199863448		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:141107548A>G	ENST00000446912.2	+	0	31							P0CG42	F157B_HUMAN	family with sequence similarity 157, member B																		cagcagcagcagcagcagcag	0.542																																						.											0													4.0	10.0	8.0					9																	141107548		591	1430	2021			100132403					9q34	2013-01-24			ENSG00000233013	ENSG00000233013			34080	other	unknown							Standard	NM_001145249		Approved		uc011mfe.1	P0CG42	OTTHUMG00000021000		9.37:g.141107548A>G				Missense_Mutation	SNP	ENST00000446912.2	37																																																																																					0.542	FAM157B-001	KNOWN	mRNA_end_NF|basic	lincRNA	lincRNA	OTTHUMT00000055378.2	NM_001145249	
LRRK2	120892	mdanderson.org	37	12	40728900	40728900	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr12:40728900A>G	ENST00000298910.7	+	40	5947	c.5889A>G	c.(5887-5889)aaA>aaG	p.K1963K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1963	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGCAGGACAAAGCCAGCCTCA	0.502																																						.											0													120.0	111.0	114.0					12																	40728900		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5889A>G	12.37:g.40728900A>G			A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				0.502	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
MUC2	4583	mdanderson.org	37	11	1093158	1093158	+	Silent	SNP	T	T	C	rs202045556		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:1093158T>C	ENST00000441003.2	+	30	5004	c.4977T>C	c.(4975-4977)acT>acC	p.T1659T	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Silent_p.T1626T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccaccaccactacggtgacac	0.637																																						.											0													135.0	203.0	179.0					11																	1093158		1808	3330	5138	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4977T>C	11.37:g.1093158T>C			Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC4	4585	mdanderson.org	37	3	195506089	195506089	+	Missense_Mutation	SNP	G	G	A	rs570653011	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:195506089G>A	ENST00000463781.3	-	2	12821	c.12362C>T	c.(12361-12363)gCa>gTa	p.A4121V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4121V|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCAGAGGAAGT	0.587													.|||	10	0.00199681	0.003	0.0	5008	,	,		9586	0.0		0.0	False		,,,				2504	0.0061					.											0													12.0	9.0	10.0					3																	195506089		545	1387	1932	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12362C>T	3.37:g.195506089G>A	ENSP00000417498:p.Ala4121Val		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	5.414	0.261488	0.10239	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.31247	1.5;1.5	0.423	-0.846	0.10734	.	.	.	.	.	T	0.15392	0.0371	N	0.19112	0.55	0.09310	N	1	B	0.17667	0.023	B	0.04013	0.001	T	0.28106	-1.0054	8	.	.	.	.	5.0683	0.14592	0.2743:0.0:0.7257:0.0	rs7374584;rs28542957	3993	E7ESK3	.	V	4121	ENSP00000417498:A4121V;ENSP00000420243:A4121V	.	A	-	2	0	MUC4	196990868	0.087000	0.21565	0.001000	0.08648	0.004000	0.04260	1.783000	0.38664	-1.195000	0.02680	-1.783000	0.00646	GCA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
NUMBL	9253	mdanderson.org	37	19	41173904	41173904	+	Silent	SNP	T	T	C	rs79658769		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:41173904T>C	ENST00000252891.4	-	10	1466	c.1299A>G	c.(1297-1299)caA>caG	p.Q433Q	NUMBL_ENST00000540131.1_Silent_p.Q392Q|NUMBL_ENST00000598779.1_Silent_p.Q392Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	433	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			gctgttgctgttgctgctgct	0.662																																						.											0													8.0	8.0	8.0					19																	41173904		2119	4125	6244	SO:0001819	synonymous_variant	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1299A>G	19.37:g.41173904T>C			Q7Z4J9	Silent	SNP	ENST00000252891.4	37	CCDS12561.1																																																																																				0.662	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462749.2	NM_004756	
OBSCN	84033	mdanderson.org	37	1	228504669	228504669	+	Silent	SNP	G	G	A	rs61825302	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:228504669G>A	ENST00000422127.1	+	51	13589	c.13545G>A	c.(13543-13545)gcG>gcA	p.A4515A	OBSCN_ENST00000366709.4_Silent_p.A1634A|OBSCN_ENST00000570156.2_Silent_p.A5472A|OBSCN_ENST00000284548.11_Silent_p.A4515A|OBSCN_ENST00000366707.4_Silent_p.A2149A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4515	Ig-like 46.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCTCTGCGCGGCTCACCG	0.731													g|||	729	0.145567	0.1218	0.2349	5008	,	,		13931	0.1518		0.159	False		,,,				2504	0.0941					.											0									,	507,3253		36,435,1409	5.0	6.0	6.0		13545,13545	-6.2	0.0	1	dbSNP_129	6	1105,6501		71,963,2769	no	coding-synonymous,coding-synonymous	OBSCN	NM_001098623.1,NM_052843.2	,	107,1398,4178	AA,AG,GG		14.528,13.484,14.1827	,	4515/7969,4515/6621	228504669	1612,9754	1880	3803	5683	SO:0001819	synonymous_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.13545G>A	1.37:g.228504669G>A			Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	CCDS58065.1																																																																																				0.731	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ODF1	4956	mdanderson.org	37	8	103573015	103573015	+	Missense_Mutation	SNP	A	A	G	rs568456031|rs62523271|rs386728346	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:103573015A>G	ENST00000285402.3	+	2	812	c.656A>G	c.(655-657)aAc>aGc	p.N219S	ODF1_ENST00000518835.1_Missense_Mutation_p.N12S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	219	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			agcccctgcaacccctgcagc	0.552																																						.											1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)											61.0	58.0	59.0					8																	103573015		2185	4223	6408	SO:0001583	missense	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.656A>G	8.37:g.103573015A>G	ENSP00000285402:p.Asn219Ser		Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	CCDS6293.1	615	0.2815934065934066	93	0.18902439024390244	136	0.3756906077348066	192	0.3356643356643357	194	0.2559366754617414	A	0.009	-1.843056	0.00568	.	.	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.84944	-1.92;1.98	4.92	-4.07	0.03975	.	0.911386	0.09516	N	0.791664	T	0.00012	0.0000	L	0.29908	0.895	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.02625	-1.1132	10	0.02654	T	1	-9.7732	11.9345	0.52866	0.5323:0.0:0.4677:0.0	rs62523271	219	Q14990	ODFP1_HUMAN	S	219;12	ENSP00000285402:N219S;ENSP00000430023:N12S	ENSP00000285402:N219S	N	+	2	0	ODF1	103642191	0.000000	0.05858	0.597000	0.28824	0.024000	0.10985	-2.116000	0.01327	-0.809000	0.04381	-1.969000	0.00466	AAC		0.552	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		
ODF1	4956	mdanderson.org	37	8	103573037	103573037	+	Silent	SNP	G	G	C	rs143802899|rs568456031|rs377699584|rs62523273|rs386728348|rs58232162	byFrequency	TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr8:103573037G>C	ENST00000285402.3	+	2	834	c.678G>C	c.(676-678)ccG>ccC	p.P226P	ODF1_ENST00000518835.1_Silent_p.P19P	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	226	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)		p.C218_P226delCNPCSPCNP(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			cctgcaacccgtgcagcccAT	0.547																																						.											1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)						C		691,3579		206,279,1650	52.0	62.0	58.0		678	-2.8	0.9	8	dbSNP_129	58	540,7902		123,294,3804	no	coding-synonymous	ODF1	NM_024410.3		329,573,5454	CC,CG,GG		6.3966,16.1827,9.6838		226/251	103573037	1231,11481	2135	4221	6356	SO:0001819	synonymous_variant	4956			M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.678G>C	8.37:g.103573037G>C			Q3SX72	Silent	SNP	ENST00000285402.3	37	CCDS6293.1																																																																																				0.547	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1		
OR4A16	81327	mdanderson.org	37	11	55111509	55111509	+	Missense_Mutation	SNP	T	T	C	rs75872349		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:55111509T>C	ENST00000314721.2	+	1	883	c.833T>C	c.(832-834)cTc>cCc	p.L278P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATTATCACACTCATGTTGAAT	0.318																																						.											0													88.0	83.0	85.0					11																	55111509		2201	4296	6497	SO:0001583	missense	81327			AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.833T>C	11.37:g.55111509T>C	ENSP00000325128:p.Leu278Pro		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	CCDS31499.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	c	0.003	-2.557746	0.00136	.	.	ENSG00000181961	ENST00000314721	T	0.30714	1.52	2.86	1.94	0.25998	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.42276	D	0.992077	B	0.02656	0.0	B	0.01281	0.0	T	0.23332	-1.0191	9	0.02654	T	1	.	8.2698	0.31838	0.0:0.87:0.0:0.13	.	278	Q8NH70	O4A16_HUMAN	P	278	ENSP00000325128:L278P	ENSP00000325128:L278P	L	+	2	0	OR4A16	54868085	0.136000	0.22515	0.992000	0.48379	0.230000	0.25150	2.565000	0.45939	0.507000	0.28148	-0.968000	0.02614	CTC		0.318	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274	
RAPH1	65059	mdanderson.org	37	2	204305990	204305990	+	Silent	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr2:204305990A>G	ENST00000319170.5	-	14	2222	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P	RAPH1_ENST00000374493.3_Silent_p.P693P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000295851.5_3'UTR	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	641					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ggggtggtggagggggtggtg	0.602																																						.											0													5.0	6.0	6.0					2																	204305990		1778	3383	5161	SO:0001819	synonymous_variant	65059			AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.1923T>C	2.37:g.204305990A>G			Q96Q37|Q9C0I2	Silent	SNP	ENST00000319170.5	37	CCDS2359.1																																																																																				0.602	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2	NM_025252	
ZNF98	148198	mdanderson.org	37	19	22575313	22575313	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:22575313C>G	ENST00000357774.5	-	4	845	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	242					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTTCCACACTCTTCGCATTTG	0.393																																						.											0													7.0	8.0	8.0					19																	22575313		1692	3884	5576	SO:0001583	missense	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000357774.5:c.724G>C	19.37:g.22575313C>G	ENSP00000350418:p.Glu242Gln			Missense_Mutation	SNP	ENST00000357774.5	37	CCDS46031.1	.	.	.	.	.	.	.	.	.	.	.	1.943	-0.443228	0.04604	.	.	ENSG00000197360	ENST00000357774	T	0.36157	1.27	1.41	-2.82	0.05787	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22859	0.0552	N	0.20610	0.595	0.09310	N	1	B	0.29671	0.254	B	0.34991	0.193	T	0.20605	-1.0270	9	0.45353	T	0.12	.	7.4838	0.27421	0.0:0.4744:0.3911:0.1345	.	242	A6NK75	ZNF98_HUMAN	Q	242	ENSP00000350418:E242Q	ENSP00000350418:E242Q	E	-	1	0	ZNF98	22367153	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.654000	0.01984	-2.230000	0.00719	-1.816000	0.00601	GAG		0.393	ZNF98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464398.1	NM_001098626	
TTC22	55001	bcgsc.ca	37	1	55266518	55266518	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr1:55266518C>T	ENST00000371276.4	-	1	422	c.319G>A	c.(319-321)Gca>Aca	p.A107T	TTC22_ENST00000371274.4_Missense_Mutation_p.A107T	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	107										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TACACGTGTGCCAGATTGGCC	0.697																																						.											0													11.0	13.0	12.0					1																	55266518		2190	4288	6478	SO:0001583	missense	55001			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.319G>A	1.37:g.55266518C>T	ENSP00000360323:p.Ala107Thr		Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540101	0.85917	.	.	ENSG00000006555	ENST00000371276;ENST00000371274	T;T	0.41065	1.01;1.01	4.31	3.39	0.38822	Tetratricopeptide-like helical (1);	0.132843	0.49916	D	0.000126	T	0.38639	0.1048	L	0.59436	1.845	0.45295	D	0.998298	B;B	0.12630	0.006;0.002	B;B	0.12156	0.005;0.007	T	0.31641	-0.9936	10	0.49607	T	0.09	-34.8523	11.2527	0.49034	0.0:0.9079:0.0:0.0921	.	107;107	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	T	107	ENSP00000360323:A107T;ENSP00000360321:A107T	ENSP00000360321:A107T	A	-	1	0	TTC22	55039106	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	4.720000	0.61944	1.145000	0.42336	0.462000	0.41574	GCA		0.697	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904	
CASP4	837	bcgsc.ca	37	11	104817887	104817887	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr11:104817887A>G	ENST00000444739.2	-	7	1868	c.958T>C	c.(958-960)Tct>Cct	p.S320P	CASP4_ENST00000393150.3_Missense_Mutation_p.S264P|CASP4_ENST00000531333.1_5'Flank	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	320					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATGAAGATAGAGCCCATTGTG	0.403																																						.											0													198.0	178.0	185.0					11																	104817887		2202	4299	6501	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.958T>C	11.37:g.104817887A>G	ENSP00000388566:p.Ser320Pro		A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381149	0.42207	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546	T;T	0.36520	1.25;1.25	5.11	5.11	0.69529	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.063418	0.64402	D	0.000004	T	0.69151	0.3079	H	0.94462	3.54	0.53688	D	0.999978	D	0.89917	1.0	D	0.97110	1.0	T	0.78201	-0.2296	10	0.72032	D	0.01	.	12.8401	0.57797	1.0:0.0:0.0:0.0	.	320	P49662	CASP4_HUMAN	P	320;264;273	ENSP00000388566:S320P;ENSP00000376857:S264P	ENSP00000347741:S273P	S	-	1	0	CASP4	104323097	1.000000	0.71417	0.146000	0.22360	0.021000	0.10359	4.319000	0.59197	1.912000	0.55364	0.528000	0.53228	TCT		0.403	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	
ZNF814	730051	bcgsc.ca	37	19	58385748	58385748	+	Missense_Mutation	SNP	G	G	A	rs145250945		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:58385748G>A	ENST00000435989.2	-	3	1244	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	337					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A337V(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACTGAAGCTAGCATATTTGCT	0.353																																						.											2	Substitution - Missense(2)	prostate(2)											58.0	51.0	53.0					19																	58385748		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1010C>T	19.37:g.58385748G>A	ENSP00000410545:p.Ala337Val		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	3.777	-0.046344	0.07407	.	.	ENSG00000204514	ENST00000435989	T	0.15372	2.43	2.11	-4.21	0.03812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07728	0.0194	N	0.21142	0.635	0.09310	N	1	B	0.32781	0.384	B	0.18561	0.022	T	0.05649	-1.0872	9	0.66056	D	0.02	.	3.5015	0.07674	0.0936:0.1206:0.3016:0.4843	.	337	B7Z6K7	ZN814_HUMAN	V	337	ENSP00000410545:A337V	ENSP00000410545:A337V	A	-	2	0	ZNF814	63077560	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.230000	0.01207	-3.525000	0.00147	-3.867000	0.00017	GCT		0.353	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	bcgsc.ca	37	19	58385788	58385788	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr19:58385788A>G	ENST00000435989.2	-	3	1204	c.970T>C	c.(970-972)Tat>Cat	p.Y324H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	324					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCACATTCATAAGGTCTTTTC	0.358																																						.											0													15.0	12.0	13.0					19																	58385788		688	1564	2252	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.970T>C	19.37:g.58385788A>G	ENSP00000410545:p.Tyr324His		A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.644	0.896732	0.17686	.	.	ENSG00000204514	ENST00000435989	T	0.21734	1.99	2.27	-1.27	0.09347	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	L	0.33485	1.01	0.09310	N	1	B	0.27498	0.18	B	0.22386	0.039	T	0.24368	-1.0162	9	0.72032	D	0.01	.	7.1587	0.25652	0.6135:0.0:0.3865:0.0	.	324	B7Z6K7	ZN814_HUMAN	H	324	ENSP00000410545:Y324H	ENSP00000410545:Y324H	Y	-	1	0	ZNF814	63077600	0.000000	0.05858	0.008000	0.14137	0.034000	0.12701	0.130000	0.15850	-0.181000	0.10619	0.113000	0.15668	TAT		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ATRIP	84126	bcgsc.ca	37	3	48498818	48498818	+	Splice_Site	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr3:48498818T>C	ENST00000320211.3	+	5	942		c.e5+2		ATRIP_ENST00000346691.4_Splice_Site|ATRIP_ENST00000357105.6_Splice_Site|ATRIP_ENST00000412052.1_Splice_Site	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein						DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCAGAGAGGGTAAGTCCatta	0.408								Other conserved DNA damage response genes																														.											0													60.0	56.0	57.0					3																	48498818		2203	4300	6503	SO:0001630	splice_region_variant	84126			AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.829+2T>C	3.37:g.48498818T>C			A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Splice_Site	SNP	ENST00000320211.3	37	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	T	15.42	2.826973	0.50739	.	.	ENSG00000164053	ENST00000421175;ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9763	0.53094	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATRIP	48473822	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	3.830000	0.55768	2.324000	0.78689	0.533000	0.62120	.		0.408	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384	Intron
CCDC28A	25901	bcgsc.ca	37	6	139101036	139101036	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr6:139101036T>C	ENST00000332797.6	+	3	661	c.506T>C	c.(505-507)cTc>cCc	p.L169P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	169										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		CACTCCTTCCTCACTGATGTC	0.458																																						.											0													125.0	114.0	118.0					6																	139101036		2203	4300	6503	SO:0001583	missense	25901			AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.506T>C	6.37:g.139101036T>C	ENSP00000332716:p.Leu169Pro		E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Missense_Mutation	SNP	ENST00000332797.6	37	CCDS5192.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.527689	0.85706	.	.	ENSG00000024862	ENST00000332797;ENST00000026464	T	0.39229	1.09	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.55924	0.1951	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.60692	-0.7213	10	0.87932	D	0	-13.6279	16.4381	0.83884	0.0:0.0:0.0:1.0	.	169	Q8IWP9	CC28A_HUMAN	P	169;56	ENSP00000332716:L169P	ENSP00000026464:L56P	L	+	2	0	CCDC28A	139142729	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.650000	0.83521	2.280000	0.76307	0.533000	0.62120	CTC		0.458	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439	
ANKIB1	54467	bcgsc.ca	37	7	91948698	91948698	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr7:91948698C>T	ENST00000265742.3	+	4	917	c.541C>T	c.(541-543)Cct>Tct	p.P181S		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	181							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)			TAAAGATACTCCTTGTGATTG	0.368																																						.											0													64.0	62.0	63.0					7																	91948698		1826	4072	5898	SO:0001583	missense	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.541C>T	7.37:g.91948698C>T	ENSP00000265742:p.Pro181Ser		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588499	0.86851	.	.	ENSG00000001629	ENST00000265742	T	0.60920	0.15	4.77	4.77	0.60923	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.78483	0.4290	M	0.83118	2.625	0.58432	D	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.81883	-0.0728	10	0.72032	D	0.01	.	18.3268	0.90256	0.0:1.0:0.0:0.0	.	181	Q9P2G1	AKIB1_HUMAN	S	181	ENSP00000265742:P181S	ENSP00000265742:P181S	P	+	1	0	ANKIB1	91786634	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.224000	0.78042	2.628000	0.89032	0.655000	0.94253	CCT		0.368	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1		
SPATA31D1	389763	bcgsc.ca	37	9	84607861	84607861	+	Missense_Mutation	SNP	C	C	T	rs552420674		TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chr9:84607861C>T	ENST00000344803.2	+	4	2523	c.2476C>T	c.(2476-2478)Ctt>Ttt	p.L826F		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	826					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCAGAAACAACTTGAAAATGC	0.453																																						.											0													71.0	67.0	68.0					9																	84607861		1858	4087	5945	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2476C>T	9.37:g.84607861C>T	ENSP00000341988:p.Leu826Phe			Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	C	8.324	0.825025	0.16678	.	.	ENSG00000214929	ENST00000344803	T	0.10668	2.85	2.74	0.327	0.15913	.	2.011690	0.02194	N	0.061661	T	0.22551	0.0544	L	0.45581	1.43	0.09310	N	1	D	0.89917	1.0	D	0.81914	0.995	T	0.11966	-1.0566	10	0.33141	T	0.24	-2.2865	2.442	0.04497	0.2628:0.5151:0.0:0.2221	.	826	Q6ZQQ2	F75D1_HUMAN	F	826	ENSP00000341988:L826F	ENSP00000341988:L826F	L	+	1	0	FAM75D1	83797681	0.003000	0.15002	0.003000	0.11579	0.053000	0.15095	0.692000	0.25482	0.072000	0.16694	0.563000	0.77884	CTT		0.453	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
MT-ND5	4540	bcgsc.ca	37	M	13129	13129	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KL-8344-01A-11D-2310-10	TCGA-KL-8344-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	3ace181a-23bd-424e-a87e-e0c01a2a2cb8	d0764fec-581b-4bd3-afe8-adcdf685562a	g.chrM:13129delC	ENST00000361567.2	+	1	793	c.793delC	c.(793-795)cccfs	p.P265fs	MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	265					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TCCGCTTCCACCCCCTAGCAG	0.512																																						.											0																																										SO:0001589	frameshift_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.793delC	M.37:g.13129delC	ENSP00000354813:p.Pro265fs		Q34773|Q8WCY3	Frame_Shift_Del	DEL	ENST00000361567.2	37																																																																																					0.512	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036	
