#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
KIAA1324	57535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	109731772	109731772	+	Missense_Mutation	SNP	C	C	T	rs143784237		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:109731772C>T	ENST00000369939.3	+	10	1487	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	KIAA1324_ENST00000529753.1_Missense_Mutation_p.T348M|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	435					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AACATGGAAACGACCGTTCTC	0.537																																						.											0								C	MET/THR	0,4406		0,0,2203	108.0	88.0	95.0		1304	5.1	0.9	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1324	NM_020775.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	435/1014	109731772	1,13005	2203	4300	6503	SO:0001583	missense	57535			AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1304C>T	1.37:g.109731772C>T	ENSP00000358955:p.Thr435Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Missense_Mutation	SNP	ENST00000369939.3	37	CCDS794.1	.	.	.	.	.	.	.	.	.	.	C	19.10	3.761923	0.69763	0.0	1.16E-4	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	T;T;T	0.43294	0.95;0.95;0.95	5.12	5.12	0.69794	Growth factor, receptor (1);	0.044050	0.85682	D	0.000000	T	0.47600	0.1454	L	0.46157	1.445	0.47374	D	0.999404	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.70716	0.97;0.969;0.959;0.959	T	0.46176	-0.9210	10	0.62326	D	0.03	-14.8291	13.2299	0.59936	0.0:0.8399:0.1601:0.0	.	435;348;435;435	Q6UXG2-4;Q6UXG2-3;C9J810;Q6UXG2	.;.;.;K1324_HUMAN	M	435;385;348	ENSP00000358955:T435M;ENSP00000393964:T385M;ENSP00000434595:T348M	ENSP00000358955:T435M	T	+	2	0	KIAA1324	109533295	1.000000	0.71417	0.927000	0.36925	0.929000	0.56500	4.981000	0.63819	2.669000	0.90835	0.561000	0.74099	ACG		0.537	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2	NM_020775	
EHBP1L1	254102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	11	65350193	65350193	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:65350193G>T	ENST00000309295.4	+	9	2315	c.2050G>T	c.(2050-2052)Gat>Tat	p.D684Y		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	684	Glu-rich.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATATCTGGGGATTTAGGGCC	0.507																																						.											0													58.0	60.0	59.0					11																	65350193		1891	4131	6022	SO:0001583	missense	254102			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2050G>T	11.37:g.65350193G>T	ENSP00000312671:p.Asp684Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.383414	0.42207	.	.	ENSG00000173442	ENST00000309295	T	0.65916	-0.18	4.77	2.88	0.33553	.	0.436525	0.17052	N	0.188887	T	0.40423	0.1116	N	0.19112	0.55	0.09310	N	0.999999	P	0.51653	0.947	B	0.37601	0.254	T	0.24548	-1.0157	10	0.54805	T	0.06	.	7.5216	0.27631	0.0894:0.0:0.7458:0.1648	.	684	Q8N3D4	EH1L1_HUMAN	Y	684	ENSP00000312671:D684Y	ENSP00000312671:D684Y	D	+	1	0	EHBP1L1	65106769	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.315000	0.19451	0.436000	0.26393	0.655000	0.94253	GAT		0.507	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658	
IFNLR1	163702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	24484160	24484160	+	Missense_Mutation	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:24484160C>A	ENST00000327535.1	-	7	1035	c.1023G>T	c.(1021-1023)caG>caT	p.Q341H	IFNLR1_ENST00000374421.3_Missense_Mutation_p.Q312H|IFNLR1_ENST00000327575.2_3'UTR	NM_170743.3|NM_173064.2	NP_734464.1|NP_775087.1	Q8IU57	INLR1_HUMAN	interferon, lambda receptor 1	341					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mucosal immune response (GO:0002385)|negative regulation of cell proliferation (GO:0008285)|regulation of defense response to virus by host (GO:0050691)|response to type III interferon (GO:0034342)	integral component of membrane (GO:0016021)|interleukin-28 receptor complex (GO:0032002)											CAATGTAGGGCTGGAAGCTGA	0.612																																						.											0													147.0	136.0	140.0					1																	24484160		2203	4300	6503	SO:0001583	missense	163702			AY129153	CCDS248.1, CCDS249.1, CCDS250.1	1p36.11	2012-11-27	2012-11-26	2012-11-26	ENSG00000185436	ENSG00000185436		"""Interferons"""	18584	protein-coding gene	gene with protein product	"""interferon lambda receptor 1"""	607404	"""interleukin 28 receptor, alpha"", ""interleukin 28 receptor, alpha (interferon, lambda receptor)"""	IL28RA			Standard	NM_173064		Approved	CRF2/12, IFNLR, IL-28R1	uc001bis.3	Q8IU57	OTTHUMG00000003036	ENST00000327535.1:c.1023G>T	1.37:g.24484160C>A	ENSP00000327824:p.Gln341His	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTX5|Q5VTX7|Q5VTX8|Q6ZML8|Q8IV66|Q8IZI7|Q8IZI8	Missense_Mutation	SNP	ENST00000327535.1	37	CCDS248.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510138	0.44660	.	.	ENSG00000185436	ENST00000327535;ENST00000374421	.	.	.	5.73	1.57	0.23409	.	2.259870	0.01080	N	0.004971	T	0.71745	0.3376	M	0.61703	1.905	0.53005	D	0.999961	D;B	0.76494	0.999;0.328	D;B	0.70716	0.97;0.085	T	0.57562	-0.7790	9	0.51188	T	0.08	-4.6758	4.9948	0.14233	0.2964:0.5395:0.0:0.1641	.	341;312	Q8IU57;Q8IU57-2	I28RA_HUMAN;.	H	341;312	.	ENSP00000327824:Q341H	Q	-	3	2	IL28RA	24356747	0.998000	0.40836	0.999000	0.59377	0.257000	0.26127	0.138000	0.16016	0.389000	0.25086	0.655000	0.94253	CAG		0.612	IFNLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008402.1	NM_170743	
SLC9C2	284525	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	173506159	173506159	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:173506159C>T	ENST00000367714.3	-	14	1999	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Missense_Mutation_p.R424H	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	526					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCCATTGTTACGCTGTTTTTC	0.333																																						.											0													122.0	125.0	124.0					1																	173506159		2203	4300	6503	SO:0001583	missense	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1577G>A	1.37:g.173506159C>T	ENSP00000356687:p.Arg526His	Somatic		WXS	Illumina HiSeq	Phase_I	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.694967	0.30052	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.09350	3.68;2.99	5.52	2.16	0.27623	.	0.287004	0.30584	N	0.009306	T	0.01189	0.0039	N	0.08118	0	0.23882	N	0.996578	P	0.44986	0.847	B	0.28991	0.097	T	0.48917	-0.8992	10	0.42905	T	0.14	-10.8475	8.0928	0.30811	0.0:0.7038:0.0:0.2962	.	526	Q5TAH2	S9A11_HUMAN	H	526;424	ENSP00000356687:R526H;ENSP00000445437:R424H	ENSP00000356687:R526H	R	-	2	0	SLC9A11	171772782	0.794000	0.28838	0.774000	0.31636	0.801000	0.45260	0.297000	0.19101	0.691000	0.31592	0.508000	0.49915	CGT		0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
FAM98B	283742	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	15	38773557	38773557	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:38773557C>T	ENST00000491535.1	+	7	802	c.794C>T	c.(793-795)aCg>aTg	p.T265M	FAM98B_ENST00000397609.2_Missense_Mutation_p.T265M	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	265						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		CCCAAGACAACGATTACAATG	0.408																																						.											0													103.0	91.0	95.0					15																	38773557		2200	4297	6497	SO:0001583	missense	283742				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.794C>T	15.37:g.38773557C>T	ENSP00000453166:p.Thr265Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8MUW5|Q8N935	Missense_Mutation	SNP	ENST00000491535.1	37	CCDS42015.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.126754	0.37533	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.45668	0.89	4.85	4.85	0.62838	.	0.204155	0.50627	D	0.000111	T	0.58892	0.2154	L	0.45581	1.43	0.47407	D	0.999411	D;P	0.89917	1.0;0.949	D;B	0.75484	0.986;0.387	T	0.56878	-0.7906	10	0.45353	T	0.12	-24.3977	18.5212	0.90952	0.0:1.0:0.0:0.0	.	265;265	A8MUW5;Q52LJ0	.;FA98B_HUMAN	M	265	ENSP00000380734:T265M	ENSP00000303412:T265M	T	+	2	0	FAM98B	36560849	0.172000	0.23043	0.931000	0.37212	0.092000	0.18411	0.935000	0.28924	2.675000	0.91044	0.467000	0.42956	ACG		0.408	FAM98B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252071.2	NM_173611	
ITGAM	3684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	31283282	31283282	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:31283282A>G	ENST00000287497.8	+	7	748	c.673A>G	c.(673-675)Aca>Gca	p.T225A	ITGAM_ENST00000544665.3_Missense_Mutation_p.T225A			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	225	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTTGGGCGGACACACACGGC	0.507																																						.											0													94.0	92.0	92.0					16																	31283282		1990	4204	6194	SO:0001583	missense	3684			J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.673A>G	16.37:g.31283282A>G	ENSP00000287497:p.Thr225Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	A	19.61	3.859430	0.71834	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	D;D	0.89123	-2.47;-2.47	5.5	5.5	0.81552	von Willebrand factor, type A (3);	.	.	.	.	D	0.95392	0.8504	M	0.91038	3.17	0.32039	N	0.598499	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96123	0.9086	9	0.87932	D	0	.	13.4224	0.61005	1.0:0.0:0.0:0.0	.	225;225	Q4VAK1;P11215	.;ITAM_HUMAN	A	225	ENSP00000441691:T225A;ENSP00000287497:T225A	ENSP00000287497:T225A	T	+	1	0	ITGAM	31190783	0.993000	0.37304	0.134000	0.22075	0.006000	0.05464	5.684000	0.68197	2.226000	0.72624	0.459000	0.35465	ACA		0.507	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ANKRD11	29123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	16	89349348	89349348	+	Missense_Mutation	SNP	A	A	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:89349348A>T	ENST00000301030.4	-	9	4062	c.3602T>A	c.(3601-3603)gTc>gAc	p.V1201D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.V1201D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1201	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTTTTCAAAGACTTTCTCTTT	0.502																																						.											0													86.0	97.0	93.0					16																	89349348		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3602T>A	16.37:g.89349348A>T	ENSP00000301030:p.Val1201Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	A	0.526	-0.860029	0.02610	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.37235	1.21;1.21	4.85	-9.7	0.00521	.	1.943490	0.02494	N	0.089786	T	0.20129	0.0484	L	0.29908	0.895	0.09310	N	1	B	0.21071	0.051	B	0.16722	0.016	T	0.06285	-1.0835	10	0.18276	T	0.48	.	6.167	0.20396	0.1154:0.1856:0.5219:0.1771	.	1201	Q6UB99	ANR11_HUMAN	D	1201	ENSP00000301030:V1201D;ENSP00000367581:V1201D	ENSP00000301030:V1201D	V	-	2	0	ANKRD11	87876849	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.493000	0.06459	-1.869000	0.01141	-0.379000	0.06801	GTC		0.502	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275	
POLR2A	5430	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7400726	7400726	+	Missense_Mutation	SNP	C	C	T	rs201628232		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7400726C>T	ENST00000322644.6	+	6	1270	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	POLR2A_ENST00000572844.1_Missense_Mutation_p.R291W	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	291					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAATCAGCTGCGGCGCAATGA	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20780	0.0		0.0	False		,,,				2504	0.0					.											0													80.0	72.0	75.0					17																	7400726		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.871C>T	17.37:g.7400726C>T	ENSP00000314949:p.Arg291Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	19.45	3.830630	0.71258	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.27402	1.67	5.55	4.56	0.56223	RNA polymerase, N-terminal (1);RNA polymerase Rpb1, domain 1 (1);	0.063343	0.64402	D	0.000010	T	0.64886	0.2639	H	0.95982	3.75	0.47584	D	0.999464	D;D	0.76494	0.998;0.999	D;P	0.64877	0.93;0.783	T	0.75703	-0.3225	10	0.66056	D	0.02	-8.6605	12.3677	0.55238	0.3066:0.6934:0.0:0.0	.	291;291	P24928;Q6NX41	RPB1_HUMAN;.	W	247;291	ENSP00000314949:R291W	ENSP00000314949:R291W	R	+	1	2	SLC35G6	7341450	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.127000	0.42035	1.297000	0.44761	0.557000	0.71058	CGG		0.567	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	GRCh37	CM015378|CM951227	TP53	M	rs121912666						102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:7578280G>A	ENST00000269305.4	-	6	758	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.P190L|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000455263.2_Missense_Mutation_p.P190L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	190	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGCTGAGGAGGGGCCAGACC	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	67	Substitution - Missense(27)|Deletion - In frame(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(6)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	large_intestine(11)|upper_aerodigestive_tract(9)|skin(8)|haematopoietic_and_lymphoid_tissue(6)|breast(6)|biliary_tract(5)|bone(5)|central_nervous_system(4)|oesophagus(4)|stomach(2)|liver(2)|ovary(2)|kidney(1)|salivary_gland(1)|prostate(1)											89.0	80.0	83.0					17																	7578280		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.569C>T	17.37:g.7578280G>A	ENSP00000269305:p.Pro190Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.21	2.468425	0.43839	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.41	4.44	0.53790	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110931	0.64402	D	0.000010	D	0.99622	0.9862	M	0.68593	2.085	0.80722	D	1	D;P;D;P;P;P;D	0.89917	0.987;0.484;0.972;0.765;0.676;0.921;1.0	D;B;P;P;P;P;D	0.91635	0.916;0.306;0.708;0.605;0.533;0.774;0.999	D	0.97802	1.0245	10	0.87932	D	0	-9.8058	12.4639	0.55747	0.0821:0.0:0.9179:0.0	.	151;190;190;97;190;190;190	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	190;190;190;190;190;190;179;97;58;97;58	ENSP00000410739:P190L;ENSP00000352610:P190L;ENSP00000269305:P190L;ENSP00000398846:P190L;ENSP00000391127:P190L;ENSP00000391478:P190L;ENSP00000425104:P58L;ENSP00000423862:P97L	ENSP00000269305:P190L	P	-	2	0	TP53	7519005	1.000000	0.71417	0.956000	0.39512	0.034000	0.12701	7.957000	0.87870	1.422000	0.47177	0.655000	0.94253	CCT		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
CDC27	996	hgsc.bcm.edu	37	17	45232055	45232055	+	Missense_Mutation	SNP	C	C	T	rs200268612		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:45232055C>T	ENST00000066544.3	-	8	1033	c.940G>A	c.(940-942)Gga>Aga	p.G314R	CDC27_ENST00000528748.1_5'Flank|CDC27_ENST00000446365.2_Missense_Mutation_p.G253R|CDC27_ENST00000531206.1_Missense_Mutation_p.G314R|CDC27_ENST00000527547.1_Missense_Mutation_p.G314R	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	314					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GAAGGGGCTCCGGTGGATGGC	0.373																																						.											0													42.0	42.0	42.0					17																	45232055		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.940G>A	17.37:g.45232055C>T	ENSP00000066544:p.Gly314Arg	Somatic		WXS	Illumina HiSeq	Phase_I	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.887899	0.33348	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	T;T;T;T;T	0.66638	-0.2;-0.22;0.08;-0.2;0.98	5.92	5.92	0.95590	.	0.186621	0.46442	D	0.000293	T	0.42245	0.1194	N	0.02539	-0.55	0.52501	D	0.999951	B;B;B;B	0.14012	0.009;0.001;0.002;0.0	B;B;B;B	0.08055	0.003;0.002;0.002;0.001	T	0.41305	-0.9516	10	0.13853	T	0.58	-4.7594	17.8238	0.88658	0.0:1.0:0.0:0.0	.	253;314;314;314	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	R	314;314;253;314;314	ENSP00000066544:G314R;ENSP00000434614:G314R;ENSP00000392802:G253R;ENSP00000437339:G314R;ENSP00000432105:G314R	ENSP00000066544:G314R	G	-	1	0	CDC27	42587054	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.650000	0.67944	2.810000	0.96702	0.585000	0.79938	GGA		0.373	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
PIAS2	9063	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	18	44409771	44409771	+	Missense_Mutation	SNP	T	T	A	rs201382502		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr18:44409771T>A	ENST00000585916.1	-	10	1261	c.1262A>T	c.(1261-1263)gAt>gTt	p.D421V	PIAS2_ENST00000324794.7_Missense_Mutation_p.D421V|PIAS2_ENST00000545673.1_Missense_Mutation_p.D131V	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	421					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGAACCATCTTCTTGGAA	0.363																																						.											0													186.0	188.0	187.0					18																	44409771		2203	4300	6503	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1262A>T	18.37:g.44409771T>A	ENSP00000465676:p.Asp421Val	Somatic		WXS	Illumina HiSeq	Phase_I	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628276	0.87560	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.60548	0.18;0.71	5.67	5.67	0.87782	.	0.044689	0.85682	D	0.000000	T	0.78317	0.4264	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.996;0.996;0.998;0.998	T	0.81961	-0.0693	10	0.87932	D	0	-12.8912	15.9171	0.79527	0.0:0.0:0.0:1.0	.	131;421;421;421	B4DGW0;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	V	421;421;131;421	ENSP00000443238:D131V;ENSP00000317163:D421V	ENSP00000262161:D421V	D	-	2	0	PIAS2	42663769	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.040000	0.89188	2.152000	0.67230	0.455000	0.32223	GAT		0.363	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	NM_004671	
NPHS1	4868	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	19	36340211	36340211	+	Missense_Mutation	SNP	C	C	T	rs149649169		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:36340211C>T	ENST00000378910.5	-	7	766	c.767G>A	c.(766-768)cGg>cAg	p.R256Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.R256Q|NPHS1_ENST00000591817.1_5'Flank	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	256	Ig-like C2-type 3.		R -> W (in NPHS1). {ECO:0000269|PubMed:18503012}.		cell adhesion (GO:0007155)|excretion (GO:0007588)|glomerular basement membrane development (GO:0032836)|glomerular visceral epithelial cell development (GO:0072015)|JNK cascade (GO:0007254)|myoblast fusion (GO:0007520)|positive regulation of actin filament polymerization (GO:0030838)|regulation of excretion (GO:0044062)|skeletal muscle tissue development (GO:0007519)	cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)	myosin binding (GO:0017022)			NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTCCTGCCCGCACGTGCCC	0.642																																						.											0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	26.0	25.0	26.0		767	1.6	0.6	19	dbSNP_134	26	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPHS1	NM_004646.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	256/1242	36340211	2,13004	2203	4300	6503	SO:0001583	missense	4868				CCDS32996.1	19q12-q13.1	2014-09-17				ENSG00000161270		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7908	protein-coding gene	gene with protein product		602716				9915943, 9660941	Standard	NM_004646		Approved	CNF, NPHN	uc002oby.3	O60500		ENST00000378910.5:c.767G>A	19.37:g.36340211C>T	ENSP00000368190:p.Arg256Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NDH2|C3RX61	Missense_Mutation	SNP	ENST00000378910.5	37	CCDS32996.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549572	0.45383	2.27E-4	1.16E-4	ENSG00000161270	ENST00000378910;ENST00000353632	D;D	0.85861	-2.04;-2.04	5.0	1.6	0.23607	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264240	0.34002	N	0.004352	T	0.78786	0.4338	N	0.25485	0.75	0.09310	N	1	D	0.60575	0.988	P	0.51487	0.671	T	0.69533	-0.5120	10	0.59425	D	0.04	-20.3966	5.9921	0.19472	0.0:0.6721:0.0:0.3279	.	256	O60500	NPHN_HUMAN	Q	256	ENSP00000368190:R256Q;ENSP00000343634:R256Q	ENSP00000343634:R256Q	R	-	2	0	NPHS1	41032051	0.016000	0.18221	0.607000	0.28956	0.210000	0.24377	0.809000	0.27168	0.720000	0.32209	-0.191000	0.12829	CGG		0.642	NPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452553.1		
PRKCG	5582	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	54394940	54394940	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54394940G>A	ENST00000263431.3	+	6	824	c.542G>A	c.(541-543)cGt>cAt	p.R181H	PRKCG_ENST00000542049.1_Missense_Mutation_p.R68H|PRKCG_ENST00000536044.1_Missense_Mutation_p.R181H|PRKCG_ENST00000540413.1_Missense_Mutation_p.R181H	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	181	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	GGCGAGGCCCGTAACCTAATT	0.542																																						.											0													135.0	129.0	131.0					19																	54394940		2203	4300	6503	SO:0001583	missense	5582			M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.542G>A	19.37:g.54394940G>A	ENSP00000263431:p.Arg181His	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811604	0.70797	.	.	ENSG00000126583	ENST00000536044;ENST00000540413;ENST00000263431;ENST00000542049	T;T;T;T	0.71103	-0.54;-0.54;-0.54;-0.54	5.34	4.3	0.51218	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.73024	0.3534	L	0.46885	1.475	0.49915	D	0.99983	D;P;B;P;P	0.69078	0.997;0.47;0.433;0.526;0.563	P;B;B;B;B	0.55055	0.767;0.027;0.056;0.046;0.101	T	0.73471	-0.3972	9	0.45353	T	0.12	.	12.3369	0.55073	0.083:0.0:0.917:0.0	.	68;181;181;181;181	B7Z8Q0;F5H5C4;B7Z870;B7Z3W6;P05129	.;.;.;.;KPCG_HUMAN	H	181;181;181;68	ENSP00000440541:R181H;ENSP00000443493:R181H;ENSP00000263431:R181H;ENSP00000438090:R68H	ENSP00000263431:R181H	R	+	2	0	PRKCG	59086752	0.750000	0.28316	0.870000	0.34147	0.647000	0.38526	3.353000	0.52247	1.399000	0.46721	0.561000	0.74099	CGT		0.542	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739	
KIAA1755	85449	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	20	36859706	36859706	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:36859706C>T	ENST00000279024.4	-	5	2040	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	590										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				AAGCAGGGGCCGCCCGGCCCT	0.637																																						.											0													46.0	44.0	44.0					20																	36859706		2203	4300	6503	SO:0001583	missense	85449			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.1769G>A	20.37:g.36859706C>T	ENSP00000279024:p.Arg590Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9C0A8	Missense_Mutation	SNP	ENST00000279024.4	37	CCDS33467.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812690	0.90707	.	.	ENSG00000149633	ENST00000279024;ENST00000373398	T	0.68903	-0.36	4.97	4.02	0.46733	.	0.163457	0.27473	N	0.019219	T	0.79718	0.4494	M	0.90019	3.08	0.43579	D	0.995916	D	0.69078	0.997	P	0.54629	0.757	T	0.83267	-0.0045	10	0.54805	T	0.06	.	12.3865	0.55335	0.0:0.9191:0.0:0.0809	.	590	Q5JYT7	K1755_HUMAN	Q	590;137	ENSP00000279024:R590Q	ENSP00000279024:R590Q	R	-	2	0	KIAA1755	36293120	0.995000	0.38212	0.993000	0.49108	0.985000	0.73830	2.737000	0.47393	1.307000	0.44944	0.655000	0.94253	CGG		0.637	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864	
HECW2	57520	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	2	197106878	197106878	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:197106878C>T	ENST00000260983.3	-	20	3762	c.3580G>A	c.(3580-3582)Gaa>Aaa	p.E1194K	HECW2_ENST00000409111.1_Missense_Mutation_p.E838K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1194					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						AGTTTGGCTTCGAAATCCCGC	0.483																																						.											0													167.0	167.0	167.0					2																	197106878		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3580G>A	2.37:g.197106878C>T	ENSP00000260983:p.Glu1194Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713155	0.89112	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.87412	-2.25;-2.25	4.75	4.75	0.60458	HECT (1);	0.059233	0.64402	D	0.000002	D	0.92437	0.7599	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90986	0.4831	10	0.30854	T	0.27	.	17.9302	0.88994	0.0:1.0:0.0:0.0	.	1194	Q9P2P5	HECW2_HUMAN	K	838;1194	ENSP00000386775:E838K;ENSP00000260983:E1194K	ENSP00000260983:E1194K	E	-	1	0	HECW2	196815123	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.651000	0.83577	2.466000	0.83321	0.563000	0.77884	GAA		0.483	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	
TMEM184B	25829	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	22	38621520	38621520	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr22:38621520T>C	ENST00000361906.3	-	7	906	c.698A>G	c.(697-699)tAc>tGc	p.Y233C	TMEM184B_ENST00000361684.4_Missense_Mutation_p.Y233C|TMEM184B_ENST00000504337.1_5'Flank	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	233						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGTGGCGAAGTAGAAGAGGAA	0.582																																						.											0													134.0	118.0	123.0					22																	38621520		2203	4300	6503	SO:0001583	missense	25829			AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.698A>G	22.37:g.38621520T>C	ENSP00000355210:p.Tyr233Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	T	28.2	4.899042	0.91962	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.61980	0.06;0.06	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.86768	0.6012	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91444	0.5176	10	0.87932	D	0	-16.9921	16.2303	0.82332	0.0:0.0:0.0:1.0	.	233	Q9Y519	T184B_HUMAN	C	233	ENSP00000355210:Y233C;ENSP00000354441:Y233C	ENSP00000354441:Y233C	Y	-	2	0	TMEM184B	36951466	1.000000	0.71417	0.998000	0.56505	0.942000	0.58702	6.187000	0.72039	2.233000	0.73108	0.533000	0.62120	TAC		0.582	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264	
SORBS2	8470	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	4	186560084	186560084	+	Intron	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:186560084G>A	ENST00000284776.7	-	10	1194				SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Missense_Mutation_p.R350W|SORBS2_ENST00000437304.2_Missense_Mutation_p.R443W|SORBS2_ENST00000448662.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCGCCACTCCGGGGCGGAGGG	0.647																																					Esophageal Squamous(153;41 2433 9491 36028)	.											0													18.0	25.0	23.0					4																	186560084		692	1591	2283	SO:0001627	intron_variant	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.684+7737C>T	4.37:g.186560084G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.858296	0.71834	.	.	ENSG00000154556	ENST00000437304;ENST00000319471;ENST00000319454	T;T;T	0.37411	1.2;1.22;1.39	4.05	-3.11	0.05299	.	.	.	.	.	T	0.34658	0.0905	L	0.36672	1.1	0.80722	D	1	D;P;D;P	0.63880	0.993;0.894;0.99;0.894	P;B;B;B	0.53490	0.727;0.312;0.336;0.312	T	0.37407	-0.9707	9	0.66056	D	0.02	.	9.0398	0.36311	0.0:0.0982:0.6601:0.2417	.	168;310;443;310	B3KPU4;O94875-4;E9PAW4;O94875-5	.;.;.;.	W	443;350;310	ENSP00000396008:R443W;ENSP00000322182:R350W;ENSP00000321983:R310W	ENSP00000321983:R310W	R	-	1	2	SORBS2	186797078	0.987000	0.35691	0.915000	0.36163	0.979000	0.70002	-0.133000	0.10451	-0.532000	0.06332	0.561000	0.74099	CGG		0.647	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
PRDM8	56978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	4	81124587	81124587	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:81124587G>C	ENST00000504452.1	+	8	2810	c.1971G>C	c.(1969-1971)ttG>ttC	p.L657F	PRDM8_ENST00000339711.4_Missense_Mutation_p.L657F|PRDM8_ENST00000415738.2_Missense_Mutation_p.L657F			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	657					corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TGGAGCCCTTGGTGAAGCGGC	0.567																																						.											0													33.0	38.0	36.0					4																	81124587		2146	4274	6420	SO:0001583	missense	56978			AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.1971G>C	4.37:g.81124587G>C	ENSP00000423985:p.Leu657Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630137	0.46944	.	.	ENSG00000152784	ENST00000504452;ENST00000339711;ENST00000415738	T;T;T	0.68181	-0.31;-0.31;-0.31	4.63	3.79	0.43588	.	0.230621	0.29987	N	0.010690	T	0.69242	0.3089	L	0.40543	1.245	0.47949	D	0.999553	D	0.76494	0.999	D	0.68765	0.96	T	0.66893	-0.5808	10	0.40728	T	0.16	.	6.5614	0.22489	0.1613:0.1487:0.69:0.0	.	657	Q9NQV8	PRDM8_HUMAN	F	657	ENSP00000423985:L657F;ENSP00000339764:L657F;ENSP00000406998:L657F	ENSP00000339764:L657F	L	+	3	2	PRDM8	81343611	0.289000	0.24334	0.991000	0.47740	0.990000	0.78478	0.282000	0.18829	1.157000	0.42530	0.591000	0.81541	TTG		0.567	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1		
FAT1	2195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	4	187527260	187527260	+	Silent	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:187527260G>T	ENST00000441802.2	-	17	10523	c.10314C>A	c.(10312-10314)ccC>ccA	p.P3438P		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3438	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3441P(1)|p.P3438P(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGGAGAAGACGGGCGCGTTGT	0.522										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	.											2	Substitution - coding silent(2)	endometrium(2)											141.0	138.0	139.0					4																	187527260		1990	4174	6164	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10314C>A	4.37:g.187527260G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000441802.2	37	CCDS47177.1																																																																																				0.522	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
SYNE1	23345	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	152652931	152652931	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:152652931C>G	ENST00000367255.5	-	78	13490	c.12889G>C	c.(12889-12891)Gat>Cat	p.D4297H	SYNE1_ENST00000448038.1_Missense_Mutation_p.D4226H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D4162H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D4297H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D4226H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4297					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCTTTTGATCTTTCAGATCT	0.398										HNSCC(10;0.0054)																												.											0													100.0	99.0	99.0					6																	152652931		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.12889G>C	6.37:g.152652931C>G	ENSP00000356224:p.Asp4297His	Somatic		WXS	Illumina HiSeq	Phase_I	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069699	0.36470	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.66	5.66	0.87406	.	0.414806	0.22380	N	0.060840	T	0.46756	0.1409	M	0.63428	1.95	0.80722	D	1	D;P;P;P	0.59767	0.986;0.668;0.668;0.776	P;P;P;P	0.56434	0.798;0.579;0.579;0.759	T	0.41431	-0.9509	10	0.56958	D	0.05	.	19.7449	0.96248	0.0:1.0:0.0:0.0	.	4297;4297;4297;4226	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	H	4297;4226;4297;4226;4162	ENSP00000356224:D4297H;ENSP00000396024:D4226H;ENSP00000265368:D4297H;ENSP00000390975:D4226H;ENSP00000341887:D4162H	ENSP00000265368:D4297H	D	-	1	0	SYNE1	152694624	1.000000	0.71417	0.981000	0.43875	0.947000	0.59692	3.922000	0.56462	2.677000	0.91161	0.591000	0.81541	GAT		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
KCNS2	3788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org	37	8	99440360	99440360	+	Silent	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:99440360G>A	ENST00000287042.4	+	2	503	c.153G>A	c.(151-153)tcG>tcA	p.S51S	KCNS2_ENST00000521839.1_Silent_p.S51S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	51					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			TCTGCCACTCGCGCGAGGCCA	0.632																																					Pancreas(138;844 2489 9202 24627)	.											0													68.0	60.0	63.0					8																	99440360		2203	4300	6503	SO:0001819	synonymous_variant	3788			AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.153G>A	8.37:g.99440360G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAN1	Silent	SNP	ENST00000287042.4	37	CCDS6279.1																																																																																				0.632	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697	
CLPB	81570	hgsc.bcm.edu;bcgsc.ca	37	11	72028203	72028203	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:72028203C>T	ENST00000294053.3	-	8	1198	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	CLPB_ENST00000543042.1_Missense_Mutation_p.R141Q|CLPB_ENST00000340729.5_Missense_Mutation_p.R283Q|CLPB_ENST00000437826.2_Missense_Mutation_p.R297Q|CLPB_ENST00000538039.1_Missense_Mutation_p.R312Q	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	342					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CTCCTTTAGTCGCTGCTCCAG	0.632																																						.											0													110.0	94.0	99.0					11																	72028203		2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.1025G>A	11.37:g.72028203C>T	ENSP00000294053:p.Arg342Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	ENST00000294053.3	37	CCDS8215.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.859350|5.859350	0.97036|0.97036	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000544382|ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042	.|T;T;T;T;T;T	.|0.30182	.|1.54;1.54;1.54;1.54;1.54;1.54	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59197|0.59197	0.2176|0.2176	M|M	0.78049|0.78049	2.395|2.395	0.52099|0.52099	D|D	0.999947|0.999947	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.85130	.|0.974;0.995;0.946;0.976;0.997	T|T	0.59742|0.59742	-0.7397|-0.7397	5|10	.|0.54805	.|T	.|0.06	-13.1716|-13.1716	18.4028|18.4028	0.90522|0.90522	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|141;283;297;312;342	.|B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078	.|.;.;.;.;CLPB_HUMAN	N|Q	120|342;312;347;283;297;141	.|ENSP00000294053:R342Q;ENSP00000441518:R312Q;ENSP00000443822:R347Q;ENSP00000340385:R283Q;ENSP00000407296:R297Q;ENSP00000439746:R141Q	.|ENSP00000294053:R342Q	D|R	-|-	1|2	0|0	CLPB|CLPB	71705851|71705851	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	6.903000|6.903000	0.75703|0.75703	2.696000|2.696000	0.92011|0.92011	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.632	CLPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396889.1	NM_030813	
OR8B4	283162	broad.mit.edu;hgsc.bcm.edu;bcgsc.ca	37	11	124294671	124294671	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124294671C>T	ENST00000356130.3	-	1	118	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACATAGATCCCTAAGAATAGA	0.453																																						.											0													61.0	60.0	60.0					11																	124294671		2201	4299	6500	SO:0001583	missense	283162			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.97G>A	11.37:g.124294671C>T	ENSP00000348449:p.Gly33Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNF8|Q6IFQ7	Missense_Mutation	SNP	ENST00000356130.3	37	CCDS31710.1	.	.	.	.	.	.	.	.	.	.	c	10.08	1.252464	0.22880	.	.	ENSG00000198657	ENST00000356130	T	0.00441	7.41	4.06	3.1	0.35709	.	0.242372	0.28841	N	0.013974	T	0.00496	0.0016	M	0.75615	2.305	0.09310	N	1	P	0.41159	0.74	P	0.46543	0.52	T	0.41998	-0.9477	10	0.30854	T	0.27	.	4.0815	0.09929	0.1674:0.5804:0.1624:0.0898	.	33	Q96RC9	OR8B4_HUMAN	R	33	ENSP00000348449:G33R	ENSP00000348449:G33R	G	-	1	0	OR8B4	123799881	0.000000	0.05858	0.981000	0.43875	0.226000	0.24999	-2.237000	0.01200	1.238000	0.43771	0.655000	0.94253	GGG		0.453	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196	
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	12	14589046	14589046	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:14589046T>G	ENST00000540793.1	+	3	1807	c.1652T>G	c.(1651-1653)tTt>tGt	p.F551C	ATF7IP_ENST00000536444.1_Missense_Mutation_p.F550C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.F550C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.F559C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.F551C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	551	Glu-rich.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TCAGATGAATTTTCTAGACGA	0.333																																						.											0													72.0	69.0	70.0					12																	14589046		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.1652T>G	12.37:g.14589046T>G	ENSP00000444589:p.Phe551Cys	Somatic		WXS	Illumina HiSeq	Phase_I	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	T	12.78	2.041184	0.35989	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19	5.48	1.68	0.24146	.	0.254035	0.28853	N	0.013940	T	0.30355	0.0762	L	0.51422	1.61	0.21897	N	0.999481	D;B;D;D;B;B	0.64830	0.994;0.005;0.981;0.981;0.004;0.004	P;B;P;P;B;B	0.61722	0.893;0.005;0.673;0.673;0.01;0.01	T	0.04522	-1.0945	10	0.66056	D	0.02	-10.5064	6.0815	0.19944	0.0:0.1288:0.2623:0.6089	.	559;550;550;551;550;162	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;.;.;MCAF1_HUMAN;.;.	C	551;550;550;559;551	ENSP00000261168:F551C;ENSP00000443179:F550C;ENSP00000445955:F550C;ENSP00000440440:F559C;ENSP00000444589:F551C	ENSP00000261168:F551C	F	+	2	0	ATF7IP	14480313	0.998000	0.40836	0.525000	0.27900	0.251000	0.25915	1.483000	0.35497	0.407000	0.25591	0.477000	0.44152	TTT		0.333	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179	
TMEM61	199964	hgsc.bcm.edu;mdanderson.org	37	1	55457726	55457726	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:55457726G>T	ENST00000371268.3	+	3	857	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	195						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GACACCGAGTGCCACACGCTC	0.602																																						.											0													109.0	110.0	109.0					1																	55457726		2203	4300	6503	SO:0001583	missense	199964			BC029775	CCDS601.1	1p32.3	2008-02-05			ENSG00000143001	ENSG00000143001			27296	protein-coding gene	gene with protein product						12477932	Standard	NM_182532		Approved		uc001cyd.3	Q8N0U2	OTTHUMG00000009991	ENST00000371268.3:c.583G>T	1.37:g.55457726G>T	ENSP00000360315:p.Ala195Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000371268.3	37	CCDS601.1	.	.	.	.	.	.	.	.	.	.	G	5.273	0.235726	0.10023	.	.	ENSG00000143001	ENST00000371268	T	0.46819	0.86	3.57	-0.174	0.13319	.	1.587460	0.04001	N	0.296491	T	0.29061	0.0722	N	0.14661	0.345	0.09310	N	1	B	0.25904	0.137	B	0.28709	0.093	T	0.14699	-1.0463	10	0.13108	T	0.6	0.0513	5.9693	0.19342	0.195:0.245:0.56:0.0	.	195	Q8N0U2	TMM61_HUMAN	S	195	ENSP00000360315:A195S	ENSP00000360315:A195S	A	+	1	0	TMEM61	55230314	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.158000	0.16422	-0.268000	0.09312	-1.598000	0.00824	GCC		0.602	TMEM61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027683.1	NM_182532	
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	15	86808005	86808005	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:86808005G>A	ENST00000441037.2	+	10	1560	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	AGBL1_ENST00000389298.3_Missense_Mutation_p.V220I|AGBL1_ENST00000421325.2_Missense_Mutation_p.V489I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	489					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATTTCCTGATGTCTGGGGACA	0.502																																						.											0													100.0	98.0	98.0					15																	86808005		1943	4140	6083	SO:0001583	missense	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.1465G>A	15.37:g.86808005G>A	ENSP00000413001:p.Val489Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422678	0.43020	.	.	ENSG00000166748	ENST00000441037;ENST00000421325;ENST00000389298	T;T	0.27557	1.66;1.66	5.96	-7.53	0.01336	Armadillo-type fold (1);	0.396899	0.26875	N	0.022048	T	0.10723	0.0262	N	0.14661	0.345	0.09310	N	1	B;B;B	0.14438	0.01;0.01;0.0	B;B;B	0.14023	0.007;0.01;0.001	T	0.05818	-1.0862	10	0.37606	T	0.19	-3.0574	3.7427	0.08536	0.0996:0.1294:0.4062:0.3648	.	188;220;489	Q96MI9-2;Q96MI9-3;Q96MI9	.;.;CBPC4_HUMAN	I	518;489;220	ENSP00000397173:V489I;ENSP00000373949:V220I	ENSP00000373949:V220I	V	+	1	0	AGBL1	84609009	0.706000	0.27856	0.070000	0.20053	0.901000	0.52897	0.294000	0.19047	-0.795000	0.04462	-1.181000	0.01715	GTC		0.502	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
CELSR3	1951	hgsc.bcm.edu;mdanderson.org	37	3	48682486	48682486	+	Missense_Mutation	SNP	C	C	A	rs147124288	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:48682486C>A	ENST00000164024.4	-	25	8234	c.7954G>T	c.(7954-7956)Gtc>Ttc	p.V2652F	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.V2657F	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2652					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACAGCAGGGACGCCCCAGCCC	0.662																																						.											0													34.0	37.0	36.0					3																	48682486		2200	4297	6497	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7954G>T	3.37:g.48682486C>A	ENSP00000164024:p.Val2652Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001497	0.74818	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.38722	1.12;1.12	5.15	3.36	0.38483	GPCR, family 2-like (1);	.	.	.	.	T	0.54663	0.1872	L	0.48986	1.54	0.58432	D	0.999996	D;D	0.65815	0.977;0.995	P;D	0.67382	0.896;0.951	T	0.54510	-0.8283	9	0.72032	D	0.01	.	11.4727	0.50280	0.0:0.8528:0.0:0.1472	.	2652;2749	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	F	2652;2657	ENSP00000164024:V2652F;ENSP00000445694:V2657F	ENSP00000164024:V2652F	V	-	1	0	CELSR3	48657490	0.998000	0.40836	0.695000	0.30226	0.936000	0.57629	3.769000	0.55303	0.574000	0.29417	-0.339000	0.08088	GTC		0.662	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
AGL	178	broad.mit.edu	37	1	100353594	100353594	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:100353594A>G	ENST00000294724.4	+	21	3220	c.2742A>G	c.(2740-2742)gaA>gaG	p.E914E	AGL_ENST00000370161.2_Silent_p.E898E|AGL_ENST00000370163.3_Silent_p.E914E|AGL_ENST00000370165.3_Silent_p.E914E|AGL_ENST00000361915.3_Silent_p.E914E|AGL_ENST00000361522.4_Silent_p.E897E|AGL_ENST00000361302.3_Silent_p.E898E	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	914					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GTGAATCAGAAGAAAAGGAAG	0.393																																						.											0													118.0	112.0	114.0					1																	100353594		2203	4300	6503	SO:0001819	synonymous_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2742A>G	1.37:g.100353594A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	ENST00000294724.4	37	CCDS759.1																																																																																				0.393	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028	
SPAG17	200162	broad.mit.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	1	118535252	118535252	+	Missense_Mutation	SNP	G	G	A	rs147490539		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:118535252G>A	ENST00000336338.5	-	36	5263	c.5198C>T	c.(5197-5199)cCg>cTg	p.P1733L		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1733						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGTACCAAACGGAGGTCCTGG	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		16444	0.0		0.0	False		,,,				2504	0.001					.											0								G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	59.0	60.0	60.0		5198	4.7	0.9	1	dbSNP_134	60	0,8600		0,0,4300	no	missense	SPAG17	NM_206996.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1733/2224	118535252	1,13005	2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.5198C>T	1.37:g.118535252G>A	ENSP00000337804:p.Pro1733Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	19.04	3.749133	0.69533	2.27E-4	0.0	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19532	2.14	5.6	4.69	0.59074	.	0.298320	0.36778	N	0.002404	T	0.25195	0.0612	M	0.61703	1.905	0.45342	D	0.998335	D	0.65815	0.995	P	0.53809	0.735	T	0.04454	-1.0950	10	0.66056	D	0.02	.	15.5732	0.76356	0.0:0.1386:0.8614:0.0	.	1733	Q6Q759	SPG17_HUMAN	L	1733;213	ENSP00000337804:P1733L	ENSP00000337804:P1733L	P	-	2	0	SPAG17	118336775	0.999000	0.42202	0.911000	0.35937	0.892000	0.51952	3.391000	0.52530	1.362000	0.46000	-0.150000	0.13652	CCG		0.413	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996	
OR2T3	343173	broad.mit.edu	37	1	248637594	248637594	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:248637594A>G	ENST00000359594.2	+	1	968	c.943A>G	c.(943-945)Aac>Gac	p.N315D		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTCAAGAATGAACCAAGAAAA	0.488																																						.											0													208.0	227.0	220.0					1																	248637594		2201	4298	6499	SO:0001583	missense	343173				CCDS31117.1	1q44	2012-08-09			ENSG00000196539	ENSG00000196539		"""GPCR / Class A : Olfactory receptors"""	14727	protein-coding gene	gene with protein product							Standard	NM_001005495		Approved		uc001iel.1	Q8NH03	OTTHUMG00000040452	ENST00000359594.2:c.943A>G	1.37:g.248637594A>G	ENSP00000352604:p.Asn315Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNJ1	Missense_Mutation	SNP	ENST00000359594.2	37	CCDS31117.1	.	.	.	.	.	.	.	.	.	.	a	3.158	-0.172775	0.06421	.	.	ENSG00000196539	ENST00000359594	T	0.09911	2.93	1.24	-0.0673	0.13761	.	.	.	.	.	T	0.06005	0.0156	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.38373	-0.9664	9	0.44086	T	0.13	.	3.1863	0.06602	0.6196:0.0:0.0:0.3804	.	315	Q8NH03	OR2T3_HUMAN	D	315	ENSP00000352604:N315D	ENSP00000352604:N315D	N	+	1	0	OR2T3	246704217	0.007000	0.16637	0.005000	0.12908	0.163000	0.22366	1.757000	0.38400	-0.035000	0.13691	0.156000	0.16432	AAC		0.488	OR2T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097348.1	NM_001005495	
KIF5B	3799	broad.mit.edu;mdanderson.org;bcgsc.ca	37	10	32321694	32321694	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:32321694T>A	ENST00000302418.4	-	13	1771	c.1314A>T	c.(1312-1314)gaA>gaT	p.E438D		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	438					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTGGTTAATTTCTTCATCCT	0.393			T	"""RET, ALK"""	NSCLC																																	.		Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													179.0	160.0	166.0					10																	32321694		2203	4300	6503	SO:0001583	missense	3799			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.1314A>T	10.37:g.32321694T>A	ENSP00000307078:p.Glu438Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVB2|Q5VZ85	Missense_Mutation	SNP	ENST00000302418.4	37	CCDS7171.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.180248	0.57800	.	.	ENSG00000170759	ENST00000302418	D	0.82526	-1.62	5.47	4.34	0.51931	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	L	0.56396	1.775	0.49582	D	0.999803	B	0.32010	0.351	B	0.36418	0.224	T	0.71163	-0.4673	10	0.24483	T	0.36	.	7.9369	0.29935	0.0:0.1602:0.0:0.8398	.	438	P33176	KINH_HUMAN	D	438	ENSP00000307078:E438D	ENSP00000307078:E438D	E	-	3	2	KIF5B	32361700	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.426000	0.44731	0.929000	0.37192	0.383000	0.25322	GAA		0.393	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047467.1	NM_004521	
RRP12	23223	broad.mit.edu	37	10	99130534	99130534	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:99130534A>G	ENST00000370992.4	-	22	2633	c.2522T>C	c.(2521-2523)cTa>cCa	p.L841P	RRP12_ENST00000414986.1_Missense_Mutation_p.L780P|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Missense_Mutation_p.L559P|RRP12_ENST00000315563.6_Missense_Mutation_p.L741P	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	841						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CACGATGTGTAGGAGGCACTT	0.567																																						.											0													82.0	80.0	81.0					10																	99130534		2203	4300	6503	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.2522T>C	10.37:g.99130534A>G	ENSP00000360031:p.Leu841Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070355	0.36566	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	4.83	4.83	0.62350	Armadillo-like helical (1);Armadillo-type fold (1);	0.343967	0.31709	N	0.007181	T	0.46092	0.1375	N	0.08118	0	0.51482	D	0.999924	P;P;P;B	0.44195	0.661;0.496;0.828;0.079	B;B;B;B	0.43783	0.165;0.191;0.431;0.069	T	0.50625	-0.8806	10	0.36615	T	0.2	-8.0646	14.4025	0.67056	1.0:0.0:0.0:0.0	.	780;741;559;841	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	P	841;741;780;559	ENSP00000360031:L841P;ENSP00000324315:L741P;ENSP00000414863:L780P;ENSP00000446184:L559P	ENSP00000324315:L741P	L	-	2	0	RRP12	99120524	1.000000	0.71417	0.974000	0.42286	0.491000	0.33493	4.326000	0.59241	1.801000	0.52704	0.260000	0.18958	CTA		0.567	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
MKI67	4288	broad.mit.edu	37	10	129899864	129899864	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr10:129899864T>C	ENST00000368654.3	-	14	9738	c.9363A>G	c.(9361-9363)gaA>gaG	p.E3121E	MKI67_ENST00000368653.3_Silent_p.E2761E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3121					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGCTTCTTTTCATTTCTGT	0.433																																						.											0													111.0	117.0	115.0					10																	129899864		2203	4300	6503	SO:0001819	synonymous_variant	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.9363A>G	10.37:g.129899864T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																				0.433	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
OR52D1	390066	broad.mit.edu;mdanderson.org	37	11	5510050	5510050	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5510050T>C	ENST00000322641.5	+	1	136	c.114T>C	c.(112-114)taT>taC	p.Y38Y	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	38					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGCCATGTATCTTGTAGCAC	0.507																																						.											0													248.0	200.0	216.0					11																	5510050		2201	4297	6498	SO:0001819	synonymous_variant	390066			BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.114T>C	11.37:g.5510050T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGY9|Q6IFI6	Silent	SNP	ENST00000322641.5	37	CCDS31384.1																																																																																				0.507	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	NM_001005163	
OR56A3	390083	broad.mit.edu	37	11	5969446	5969446	+	Silent	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:5969446C>A	ENST00000329564.6	+	1	877	c.870C>A	c.(868-870)gcC>gcA	p.A290A		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCCTGCAGCCCTTAACCCCA	0.478																																						.											0													127.0	120.0	123.0					11																	5969446		2062	4221	6283	SO:0001819	synonymous_variant	390083				CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.870C>A	11.37:g.5969446C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	CCDS41614.1																																																																																				0.478	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443	
KCNJ11	3767	broad.mit.edu	37	11	17408682	17408682	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:17408682T>C	ENST00000339994.4	-	1	1524	c.957A>G	c.(955-957)gtA>gtG	p.V319V	KCNJ11_ENST00000526747.1_5'Flank|KCNJ11_ENST00000528731.1_Silent_p.V232V	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	319					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	CCTCCTCAGCTACAATGGGCA	0.612											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													156.0	136.0	143.0					11																	17408682		2200	4293	6493	SO:0001819	synonymous_variant	3767			D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.957A>G	11.37:g.17408682T>C		Somatic	717	WXS	Illumina HiSeq	Phase_I	B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	CCDS31436.1																																																																																				0.612	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525	
MPPED2	744	broad.mit.edu	37	11	30601906	30601906	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:30601906A>G	ENST00000358117.5	-	1	137	c.15T>C	c.(13-15)atT>atC	p.I5I	MPPED2_ENST00000448418.2_Silent_p.I5I	NM_001584.2	NP_001575.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	5					nervous system development (GO:0007399)		hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CTTGAGAAGGAATCCCATGTG	0.493																																						.											0													242.0	193.0	209.0					11																	30601906		2202	4299	6501	SO:0001819	synonymous_variant	744			U57911	CCDS7870.1, CCDS44560.1	11p13	2008-07-18	2005-10-10	2005-10-10	ENSG00000066382	ENSG00000066382			1180	protein-coding gene	gene with protein product		600911	"""chromosome 11 open reading frame 8"""	C11orf8		8666403, 9266672	Standard	NM_001584		Approved	239FB, D11S302E, Hs.46638, FAM1B, dJ873F21.1, dJ1024C24.1	uc001msr.3	Q15777	OTTHUMG00000166159	ENST00000358117.5:c.15T>C	11.37:g.30601906A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQZ5|E9PB10|Q59GE6	Silent	SNP	ENST00000358117.5	37	CCDS7870.1																																																																																				0.493	MPPED2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388155.2	NM_001584	
ATM	472	broad.mit.edu	37	11	108216609	108216609	+	Missense_Mutation	SNP	C	C	T	rs141534716		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:108216609C>T	ENST00000452508.2	+	59	8747	c.8558C>T	c.(8557-8559)aCg>aTg	p.T2853M	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000278616.4_Missense_Mutation_p.T2853M|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2853	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.T2853M(2)|p.Y2852fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TTGGCTTATACGCGCAGTGTA	0.368			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	3	Substitution - Missense(2)|Deletion - Frameshift(1)	endometrium(2)|prostate(1)						C	MET/THR	1,4401	2.1+/-5.4	0,1,2200	141.0	144.0	143.0		8558	5.5	1.0	11	dbSNP_134	143	1,8595	1.2+/-3.3	0,1,4297	yes	missense	ATM	NM_000051.3	81	0,2,6497	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	2853/3057	108216609	2,12996	2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8558C>T	11.37:g.108216609C>T	ENSP00000388058:p.Thr2853Met	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069148	0.93950	2.27E-4	1.16E-4	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.82433	-1.61;-1.61	5.54	5.54	0.83059	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92642	0.7662	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93456	0.6806	10	0.87932	D	0	.	19.4688	0.94954	0.0:1.0:0.0:0.0	.	2853	Q13315	ATM_HUMAN	M	2853	ENSP00000278616:T2853M;ENSP00000388058:T2853M	ENSP00000278616:T2853M	T	+	2	0	ATM	107721819	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.802000	0.85969	2.594000	0.87642	0.650000	0.86243	ACG		0.368	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
OR8D4	338662	broad.mit.edu;mdanderson.org;bcgsc.ca	37	11	123777314	123777314	+	Missense_Mutation	SNP	T	T	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:123777314T>A	ENST00000321355.2	+	1	206	c.176T>A	c.(175-177)aTg>aAg	p.M59K		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.M59T(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		CATACCCCCATGTACTATTTC	0.398																																						.											1	Substitution - Missense(1)	lung(1)											246.0	235.0	239.0					11																	123777314		2202	4299	6501	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.176T>A	11.37:g.123777314T>A	ENSP00000325381:p.Met59Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	T	13.42	2.233122	0.39498	.	.	ENSG00000181518	ENST00000321355	T	0.09911	2.93	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000019	T	0.48077	0.1480	H	0.97682	4.055	0.44098	D	0.996865	D	0.76494	0.999	D	0.69479	0.964	T	0.67280	-0.5710	10	0.87932	D	0	.	14.8892	0.70594	0.0:0.0:0.0:1.0	.	59	Q8NGM9	OR8D4_HUMAN	K	59	ENSP00000325381:M59K	ENSP00000325381:M59K	M	+	2	0	OR8D4	123282524	1.000000	0.71417	1.000000	0.80357	0.053000	0.15095	4.803000	0.62546	2.143000	0.66587	0.533000	0.62120	ATG		0.398	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197	
VWA5A	4013	broad.mit.edu	37	11	124005629	124005629	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:124005629G>A	ENST00000456829.2	+	12	1498	c.1247G>A	c.(1246-1248)tGt>tAt	p.C416Y	VWA5A_ENST00000392748.1_Missense_Mutation_p.C416Y|VWA5A_ENST00000360334.4_Intron	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	416	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						AATTGCAGGTGTTTCTCATTT	0.408																																						.											0													60.0	59.0	59.0					11																	124005629		2201	4299	6500	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.1247G>A	11.37:g.124005629G>A	ENSP00000407726:p.Cys416Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.637952	0.67130	.	.	ENSG00000110002	ENST00000456829;ENST00000392748	T;T	0.08546	3.08;3.08	5.86	5.86	0.93980	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.35128	0.0921	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.06570	-1.0819	10	0.66056	D	0.02	-19.8932	17.6693	0.88212	0.0:0.0:1.0:0.0	.	416	O00534	VMA5A_HUMAN	Y	416	ENSP00000407726:C416Y;ENSP00000376504:C416Y	ENSP00000376504:C416Y	C	+	2	0	VWA5A	123510839	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	7.722000	0.84778	2.774000	0.95407	0.655000	0.94253	TGT		0.408	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
FOXJ2	55810	broad.mit.edu;mdanderson.org;bcgsc.ca	37	12	8196571	8196571	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:8196571G>C	ENST00000162391.3	+	5	1647	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	FOXJ2_ENST00000428177.2_Missense_Mutation_p.E168Q	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	168					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		ACCAGAACAGGAGGCAAGCAA	0.542																																						.											0													81.0	80.0	81.0					12																	8196571		2203	4300	6503	SO:0001583	missense	55810			AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.502G>C	12.37:g.8196571G>C	ENSP00000162391:p.Glu168Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575239	0.65878	.	.	ENSG00000065970	ENST00000162391;ENST00000428177	D;D	0.94793	-3.35;-3.52	5.2	5.2	0.72013	.	0.562326	0.16897	N	0.195084	D	0.90466	0.7014	N	0.24115	0.695	0.41544	D	0.988532	B;B	0.29301	0.155;0.241	B;B	0.34931	0.039;0.192	D	0.87667	0.2538	10	0.30078	T	0.28	.	14.2723	0.66159	0.0:0.0:1.0:0.0	.	168;168	Q9P0K8;Q9P0K8-2	FOXJ2_HUMAN;.	Q	168	ENSP00000162391:E168Q;ENSP00000403411:E168Q	ENSP00000162391:E168Q	E	+	1	0	FOXJ2	8087838	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.332000	0.72934	2.423000	0.82170	0.561000	0.74099	GAG		0.542	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	NM_018416	
OR10A7	121364	broad.mit.edu	37	12	55615316	55615316	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:55615316G>A	ENST00000326258.1	+	1	508	c.508G>A	c.(508-510)Gga>Aga	p.G170R		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	170						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TCCTTTCTGTGGACCAAATGC	0.498																																						.											0													179.0	153.0	162.0					12																	55615316		2203	4300	6503	SO:0001583	missense	121364			BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.508G>A	12.37:g.55615316G>A	ENSP00000326718:p.Gly170Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFD5|Q96R19	Missense_Mutation	SNP	ENST00000326258.1	37	CCDS31815.1	.	.	.	.	.	.	.	.	.	.	g	15.11	2.736040	0.49045	.	.	ENSG00000179919	ENST00000326258	T	0.38560	1.13	3.55	3.55	0.40652	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40554	N	0.001068	T	0.53061	0.1773	M	0.69823	2.125	0.32695	N	0.513659	P	0.45768	0.866	P	0.50192	0.634	T	0.69558	-0.5113	10	0.59425	D	0.04	.	15.2909	0.73865	0.0:0.0:1.0:0.0	.	170	Q8NGE5	O10A7_HUMAN	R	170	ENSP00000326718:G170R	ENSP00000326718:G170R	G	+	1	0	OR10A7	53901583	1.000000	0.71417	0.943000	0.38184	0.753000	0.42808	3.279000	0.51670	2.002000	0.58637	0.637000	0.83480	GGA		0.498	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1		
CCDC64	92558	broad.mit.edu	37	12	120510407	120510407	+	Silent	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:120510407G>A	ENST00000397558.2	+	6	1182	c.1182G>A	c.(1180-1182)acG>acA	p.T394T	CCDC64_ENST00000257583.4_Silent_p.T43T|CCDC64_ENST00000446727.2_Intron	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	394					Golgi to secretory granule transport (GO:0055107)|neuron projection development (GO:0031175)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	dynactin binding (GO:0034452)|Rab GTPase binding (GO:0017137)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGTCTCCACGGACTCCTCCA	0.572																																						.											0													62.0	65.0	64.0					12																	120510407		2108	4236	6344	SO:0001819	synonymous_variant	92558			U88834, AK129960	CCDS41845.1	12q24.23	2006-01-24				ENSG00000135127			28095	protein-coding gene	gene with protein product							Standard	NM_207311		Approved	FLJ26450	uc001txl.1	Q6ZP65	OTTHUMG00000169311	ENST00000397558.2:c.1182G>A	12.37:g.120510407G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MUC8|B4DWL0|B5MDJ0|O95000	Silent	SNP	ENST00000397558.2	37	CCDS41845.1																																																																																				0.572	CCDC64-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403390.2	NM_207311	
POLR1D	51082	broad.mit.edu;mdanderson.org	37	13	28197257	28197257	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:28197257C>T	ENST00000302979.3	+	3	1294	c.272C>T	c.(271-273)cCa>cTa	p.P91L	POLR1D_ENST00000465887.1_Intron|LNX2_ENST00000316334.3_5'Flank|POLR1D_ENST00000399697.3_Intron|POLR1D_ENST00000399696.1_Missense_Mutation_p.P91L	NM_015972.3	NP_057056.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa	91					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		GGTACCCTTCCAGCTGTTGAG	0.443																																						.											0													104.0	105.0	104.0					13																	28197257		2203	4300	6503	SO:0001583	missense	51082			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000302979.3:c.272C>T	13.37:g.28197257C>T	ENSP00000302478:p.Pro91Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TBX2|Q96BR3	Missense_Mutation	SNP	ENST00000302979.3	37	CCDS9325.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757524	0.69648	.	.	ENSG00000186184	ENST00000302979;ENST00000399696	D;D	0.92495	-3.05;-3.05	5.08	5.08	0.68730	DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	.	.	.	.	D	0.95050	0.8397	M	0.76574	2.34	0.58432	D	0.999998	D	0.69078	0.997	D	0.63703	0.917	D	0.94642	0.7831	9	0.52906	T	0.07	-7.0239	14.7727	0.69691	0.0:1.0:0.0:0.0	.	91	Q9Y2S0	RPAC2_HUMAN	L	91	ENSP00000302478:P91L;ENSP00000382603:P91L	ENSP00000302478:P91L	P	+	2	0	POLR1D	27095257	0.990000	0.36364	1.000000	0.80357	0.981000	0.71138	1.158000	0.31737	2.767000	0.95098	0.650000	0.86243	CCA		0.443	POLR1D-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044305.1	NM_015972, NM_152705	
NEK5	341676	broad.mit.edu	37	13	52686431	52686431	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr13:52686431T>C	ENST00000355568.4	-	5	424	c.285A>G	c.(283-285)caA>caG	p.Q95Q		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	95	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACACACCCCGTTGTCTATTGA	0.348																																						.											0													132.0	121.0	125.0					13																	52686431		2203	4300	6503	SO:0001819	synonymous_variant	341676			BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.285A>G	13.37:g.52686431T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TAP5	Silent	SNP	ENST00000355568.4	37	CCDS31979.1																																																																																				0.348	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289	
GNPNAT1	64841	broad.mit.edu	37	14	53250171	53250172	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:53250171_53250172delTC	ENST00000216410.3	-	3	373_374	c.186_187delGA	c.(184-189)gagactfs	p.ET62fs	GNPNAT1_ENST00000554230.1_5'UTR|RN7SL588P_ENST00000583393.1_RNA	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	62	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|glucosamine metabolic process (GO:0006041)|liver development (GO:0001889)|N-acetylglucosamine metabolic process (GO:0006044)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|membrane (GO:0016020)	glucosamine 6-phosphate N-acetyltransferase activity (GO:0004343)|monosaccharide binding (GO:0048029)			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					ACAACTCCAGTCTCTGTTAGCT	0.327																																						.											0																																										SO:0001589	frameshift_variant	64841			AK001469	CCDS9712.1	14q22.1	2011-11-16			ENSG00000100522	ENSG00000100522	2.3.1.4		19980	protein-coding gene	gene with protein product							Standard	NM_198066		Approved	Gpnat1, FLJ10607	uc001xab.3	Q96EK6	OTTHUMG00000152334	ENST00000216410.3:c.186_187delGA	14.37:g.53250173_53250174delTC	ENSP00000216410:p.Glu62fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000216410.3	37	CCDS9712.1																																																																																				0.327	GNPNAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276898.1		
AHSA1	10598	broad.mit.edu	37	14	77926107	77926111	+	Frame_Shift_Del	DEL	CTTAT	CTTAT	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	CTTAT	CTTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:77926107_77926111delCTTAT	ENST00000216479.3	+	2	389_393	c.229_233delCTTAT	c.(229-234)cttatcfs	p.LI77fs	VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|VIPAS39_ENST00000327028.4_5'Flank|AHSA1_ENST00000535854.2_Frame_Shift_Del_p.LI77fs|VIPAS39_ENST00000553888.1_5'Flank|AHSA1_ENST00000555517.1_Frame_Shift_Del_p.LI77fs|VIPAS39_ENST00000448935.2_5'Flank|AHSA1_ENST00000555457.1_3'UTR|VIPAS39_ENST00000556909.1_5'Flank|VIPAS39_ENST00000557658.1_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	77					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		CAAAGGGAAACTTATCTTCTTTTAT	0.429																																						.											0																																										SO:0001589	frameshift_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.229_233delCTTAT	14.37:g.77926107_77926111delCTTAT	ENSP00000216479:p.Leu77fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9L2|B4DUR9|Q96IL6|Q9P060	Frame_Shift_Del	DEL	ENST00000216479.3	37	CCDS9863.1																																																																																				0.429	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111	
GOLGA6L6	727832	broad.mit.edu	37	15	20740084	20740084	+	Missense_Mutation	SNP	G	G	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:20740084G>C	ENST00000427390.2	-	8	1756	c.1666C>G	c.(1666-1668)Cag>Gag	p.Q556E		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	556	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						ATCTTCTCCTGCTCATGCATc	0.562																																						.											0													73.0	76.0	75.0					15																	20740084		678	1552	2230	SO:0001583	missense	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1666C>G	15.37:g.20740084G>C	ENSP00000398615:p.Gln556Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3YTC0	Missense_Mutation	SNP	ENST00000427390.2	37	CCDS45184.1	.	.	.	.	.	.	.	.	.	.	G	1.536	-0.543180	0.04053	.	.	ENSG00000215405	ENST00000427390	T	0.07114	3.22	.	.	.	.	.	.	.	.	T	0.06690	0.0171	L	0.38175	1.15	0.09310	N	1	P	0.45594	0.862	P	0.46110	0.504	T	0.09335	-1.0679	7	0.02654	T	1	.	.	.	.	.	556	A8MZA4	GG6L6_HUMAN	E	556	ENSP00000398615:Q556E	ENSP00000398615:Q556E	Q	-	1	0	GOLGA6L6	19000098	0.856000	0.29760	0.037000	0.18230	0.037000	0.13140	1.457000	0.35212	0.159000	0.19401	0.162000	0.16502	CAG		0.562	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
OTUD7A	161725	broad.mit.edu	37	15	31779681	31779681	+	Silent	SNP	G	G	A	rs200079505		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:31779681G>A	ENST00000307050.4	-	9	1331	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	OTUD7A_ENST00000382902.1_Silent_p.D420D	NM_130901.1	NP_570971.1	Q8TE49	OTU7A_HUMAN	OTU deubiquitinase 7A	413	Catalytic. {ECO:0000250}.				protein K11-linked deubiquitination (GO:0035871)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TATCGTTGTCGTCTTTCCCCC	0.612																																						.											0													109.0	92.0	98.0					15																	31779681		2202	4299	6501	SO:0001819	synonymous_variant	161725			AJ430383	CCDS10026.1	15q13.1	2014-02-24	2014-02-24	2006-07-07	ENSG00000169918	ENSG00000169918		"""OTU domain containing"""	20718	protein-coding gene	gene with protein product		612024	"""chromosome 15 open reading frame 16"", ""OTU domain containing 7"", ""OTU domain containing 7A"""	C15orf16, OTUD7		23827681	Standard	NM_130901		Approved	CEZANNE2	uc001zfq.3	Q8TE49	OTTHUMG00000129275	ENST00000307050.4:c.1239C>T	15.37:g.31779681G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWK5	Silent	SNP	ENST00000307050.4	37	CCDS10026.1																																																																																				0.612	OTUD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251393.2	NM_130901	
CASC5	57082	broad.mit.edu	37	15	40943724	40943724	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr15:40943724A>G	ENST00000346991.5	+	21	6736	c.6346A>G	c.(6346-6348)Atg>Gtg	p.M2116V	CASC5_ENST00000399668.2_Missense_Mutation_p.M2090V			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2116	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AATAGACTTTATGCAAAAACA	0.363																																						.											0													85.0	78.0	80.0					15																	40943724		1829	4095	5924	SO:0001583	missense	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6346A>G	15.37:g.40943724A>G	ENSP00000335463:p.Met2116Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	9.506	1.104450	0.20632	.	.	ENSG00000137812	ENST00000346991;ENST00000399668	T;T	0.04502	3.61;3.61	5.05	-2.59	0.06209	.	1.055760	0.07421	N	0.893975	T	0.01222	0.0040	N	0.00926	-1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.47787	-0.9090	10	0.08381	T	0.77	.	1.2805	0.02040	0.41:0.2947:0.1485:0.1468	.	2090;2116	Q8NG31-2;Q8NG31	.;CASC5_HUMAN	V	2116;2090	ENSP00000335463:M2116V;ENSP00000382576:M2090V	ENSP00000335463:M2116V	M	+	1	0	CASC5	38731016	0.000000	0.05858	0.118000	0.21660	0.947000	0.59692	0.346000	0.19997	-0.082000	0.12640	-0.313000	0.08912	ATG		0.363	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
DCTPP1	79077	broad.mit.edu	37	16	30435593	30435593	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr16:30435593C>T	ENST00000319285.4	-	3	568	c.474G>A	c.(472-474)gcG>gcA	p.A158A	DCTPP1_ENST00000568973.1_Silent_p.A37A|DCTPP1_ENST00000568434.1_Silent_p.A37A|ZNF771_ENST00000566625.1_Intron|DCTPP1_ENST00000567983.1_Silent_p.A59A|DCTPP1_ENST00000565758.1_Silent_p.A37A	NM_024096.1	NP_077001.1	Q9H773	DCTP1_HUMAN	dCTP pyrophosphatase 1	158					nucleoside triphosphate catabolic process (GO:0009143)|protein homotetramerization (GO:0051289)	cytosol (GO:0005829)	dCTP diphosphatase activity (GO:0047840)|magnesium ion binding (GO:0000287)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|pyrimidine deoxyribonucleotide binding (GO:0032556)			kidney(1)|large_intestine(3)|upper_aerodigestive_tract(1)	5						AGGGAATGTCCGCAGGCCCCA	0.607																																						.											0													41.0	38.0	39.0					16																	30435593		2197	4300	6497	SO:0001819	synonymous_variant	79077			BC001344	CCDS10680.1	16p11.2	2009-02-11			ENSG00000179958	ENSG00000179958	3.6.1.12		28777	protein-coding gene	gene with protein product	"""XTP3-transactivated protein A"""	615840				15740738	Standard	NM_024096		Approved	MGC5627, RS21C6, CDA03, XTP3TPA	uc002dyf.3	Q9H773	OTTHUMG00000132416	ENST00000319285.4:c.474G>A	16.37:g.30435593C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000319285.4	37	CCDS10680.1																																																																																				0.607	DCTPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255553.2	NM_024096	
PTRH2	51651	broad.mit.edu;mdanderson.org	37	17	57775085	57775085	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:57775085C>T	ENST00000470557.2	-	1	3701	c.255G>A	c.(253-255)caG>caA	p.Q85Q	PTRH2_ENST00000579915.1_5'Flank|PTRH2_ENST00000409433.2_Silent_p.Q86Q|PTRH2_ENST00000393038.2_Silent_p.Q85Q|PTRH2_ENST00000537860.1_Silent_p.Q85Q			Q9Y3E5	PTH2_HUMAN	peptidyl-tRNA hydrolase 2	85					apoptotic process (GO:0006915)|negative regulation of anoikis (GO:2000811)|negative regulation of gene expression (GO:0010629)|positive regulation of anoikis (GO:2000210)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	aminoacyl-tRNA hydrolase activity (GO:0004045)			large_intestine(1)	1	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CATGAGAGCACTGGGCAGCCA	0.473																																						.											0													170.0	153.0	159.0					17																	57775085		2203	4300	6503	SO:0001819	synonymous_variant	51651			AF151905	CCDS11618.1	17q23.2	2014-07-18			ENSG00000141378	ENSG00000141378			24265	protein-coding gene	gene with protein product	"""Bcl-2 inhibitor of transcription"", ""cilia and flagella associated protein 37"""	608625				10810093, 15006356, 14660562	Standard	XM_005257447		Approved	BIT1, CGI-147, PTH2, CFAP37	uc002ixt.3	Q9Y3E5	OTTHUMG00000154532	ENST00000470557.2:c.255G>A	17.37:g.57775085C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KUY4|Q9NTE5	Silent	SNP	ENST00000470557.2	37	CCDS11618.1																																																																																				0.473	PTRH2-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000448482.1	NM_016077	
DNAI2	64446	broad.mit.edu	37	17	72306262	72306262	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:72306262T>C	ENST00000311014.6	+	11	1521	c.1454T>C	c.(1453-1455)cTc>cCc	p.L485P	DNAI2_ENST00000579490.1_Missense_Mutation_p.L542P|DNAI2_ENST00000582036.1_Missense_Mutation_p.L473P|AC103809.1_ENST00000516976.1_RNA|DNAI2_ENST00000307504.5_Missense_Mutation_p.L342P|DNAI2_ENST00000446837.2_Missense_Mutation_p.L485P|RP11-647F2.2_ENST00000585167.1_RNA			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	485					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCGCCTGGGCTCTCTACCCTC	0.642									Kartagener syndrome																													.											0													48.0	44.0	45.0					17																	72306262		2203	4300	6503	SO:0001583	missense	64446	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1454T>C	17.37:g.72306262T>C	ENSP00000308312:p.Leu485Pro	Somatic		WXS	Illumina HiSeq	Phase_I	C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	T	16.08	3.021966	0.54576	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.38240	1.15;1.15;1.15	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	M	0.93283	3.4	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.78526	-0.2170	10	0.87932	D	0	-37.7517	14.8647	0.70406	0.0:0.0:0.0:1.0	.	485	Q9GZS0	DNAI2_HUMAN	P	485;342;485	ENSP00000308312:L485P;ENSP00000302929:L342P;ENSP00000400252:L485P	ENSP00000302929:L342P	L	+	2	0	DNAI2	69817857	1.000000	0.71417	0.993000	0.49108	0.059000	0.15707	7.728000	0.84847	1.985000	0.57927	0.374000	0.22700	CTC		0.642	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1	NM_023036	
RCN3	57333	broad.mit.edu	37	19	50031830	50031830	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:50031830delT	ENST00000270645.3	+	2	548	c.101delT	c.(100-102)gtgfs	p.V34fs	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	34						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		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;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CAGGGGAGGGTGCACCAGGCG	0.642																																						.											0													71.0	76.0	74.0					19																	50031830		2203	4300	6503	SO:0001589	frameshift_variant	57333			AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.101delT	19.37:g.50031830delT	ENSP00000270645:p.Val34fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9HBZ8	Frame_Shift_Del	DEL	ENST00000270645.3	37	CCDS12771.1																																																																																				0.642	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1	NM_020650	
LILRA4	23547	broad.mit.edu	37	19	54848817	54848817	+	Missense_Mutation	SNP	C	C	T	rs368679017		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:54848817C>T	ENST00000291759.4	-	5	862	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	269	Ig-like C2-type 3.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTGGGGCTGCCGGCCAGGGCG	0.652													C|||	1	0.000199681	0.0	0.0014	5008	,	,		13012	0.0		0.0	False		,,,				2504	0.0					.											0								C	GLN/ARG	0,4404		0,0,2202	21.0	24.0	23.0		806	-4.7	0.0	19		23	1,8595		0,1,4297	no	missense	LILRA4	NM_012276.3	43	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign	269/500	54848817	1,12999	2202	4298	6500	SO:0001583	missense	23547			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.806G>A	19.37:g.54848817C>T	ENSP00000291759:p.Arg269Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q32MC4	Missense_Mutation	SNP	ENST00000291759.4	37	CCDS12890.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.028146	0.00410	0.0	1.16E-4	ENSG00000239961	ENST00000291759	T	0.11385	2.78	2.35	-4.7	0.03288	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.635280	0.00754	N	0.001089	T	0.03827	0.0108	N	0.04132	-0.27	0.09310	N	1	B	0.18166	0.026	B	0.09377	0.004	T	0.34900	-0.9810	10	0.02654	T	1	.	5.1701	0.15105	0.304:0.4924:0.0:0.2036	.	269	P59901	LIRA4_HUMAN	Q	269	ENSP00000291759:R269Q	ENSP00000291759:R269Q	R	-	2	0	LILRA4	59540629	0.007000	0.16637	0.000000	0.03702	0.002000	0.02628	0.647000	0.24812	-2.662000	0.00418	-1.532000	0.00920	CGG		0.652	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
NLRP8	126205	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	56466067	56466067	+	Missense_Mutation	SNP	G	G	A	rs372844411		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:56466067G>A	ENST00000291971.3	+	3	714	c.643G>A	c.(643-645)Gga>Aga	p.G215R	NLRP8_ENST00000590542.1_Missense_Mutation_p.G215R	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	215	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCTGGGATCGGAAAAACAAT	0.527																																						.											0								G	ARG/GLY	0,4406		0,0,2203	86.0	70.0	75.0		643	0.9	0.0	19		75	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP8	NM_176811.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	215/1049	56466067	1,13005	2203	4300	6503	SO:0001583	missense	126205			AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.643G>A	19.37:g.56466067G>A	ENSP00000291971:p.Gly215Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275207	0.40194	0.0	1.16E-4	ENSG00000179709	ENST00000291971	D	0.90133	-2.62	2.04	0.899	0.19271	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.94450	0.8214	M	0.87971	2.92	0.19775	N	0.999955	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.85201	0.1015	9	0.87932	D	0	.	5.4852	0.16745	0.0:0.0:0.6708:0.3292	.	215;215	Q86W28-2;Q86W28	.;NALP8_HUMAN	R	215	ENSP00000291971:G215R	ENSP00000291971:G215R	G	+	1	0	NLRP8	61157879	1.000000	0.71417	0.002000	0.10522	0.061000	0.15899	4.154000	0.58125	0.368000	0.24481	0.514000	0.50259	GGA		0.527	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811	
LPIN1	23175	broad.mit.edu	37	2	11922578	11922578	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:11922578C>T	ENST00000256720.2	+	7	1194	c.1101C>T	c.(1099-1101)ccC>ccT	p.P367P	LPIN1_ENST00000396098.1_Silent_p.P409P|LPIN1_ENST00000396097.1_Silent_p.P97P|LPIN1_ENST00000449576.2_Silent_p.P452P|LPIN1_ENST00000425416.2_Silent_p.P373P|LPIN1_ENST00000396099.1_Silent_p.P409P	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	367					cellular lipid metabolic process (GO:0044255)|fatty acid catabolic process (GO:0009062)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)|triglyceride mobilization (GO:0006642)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		TCAAACCCCCCTCTGCCAGTG	0.517																																						.											0													76.0	78.0	77.0					2																	11922578		2203	4300	6503	SO:0001819	synonymous_variant	23175			D80010	CCDS1682.1, CCDS58699.1, CCDS58700.1, CCDS58701.1	2p25.1	2008-05-23			ENSG00000134324	ENSG00000134324			13345	protein-coding gene	gene with protein product		605518				11138012, 8724849, 16950137	Standard	NM_145693		Approved	KIAA0188	uc010yjm.3	Q14693	OTTHUMG00000119082	ENST00000256720.2:c.1101C>T	2.37:g.11922578C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MU38|B4DET9|B4DGS4|B4DGZ6|B5MC18|B7Z858|D6W506|E7ESE7|F5GY24|Q53T25	Silent	SNP	ENST00000256720.2	37	CCDS1682.1																																																																																				0.517	LPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239296.3	NM_145693	
CCDC88A	55704	broad.mit.edu	37	2	55544911	55544911	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:55544911G>T	ENST00000436346.1	-	20	4232	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.Q1131K|CCDC88A_ENST00000413716.2_Missense_Mutation_p.Q1130K|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.Q1130K|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1131					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGACTGCTGGATTAGGAGT	0.353																																						.											0													134.0	137.0	136.0					2																	55544911		2203	4300	6503	SO:0001583	missense	55704			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3391C>A	2.37:g.55544911G>T	ENSP00000410608:p.Gln1131Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.21|17.21	3.330910|3.330910	0.60853|0.60853	.|.	.|.	ENSG00000115355|ENSG00000115355	ENST00000456975|ENST00000336838;ENST00000263630;ENST00000436346;ENST00000412148;ENST00000413716;ENST00000426576	.|T;T;T;D;T;T	.|0.84873	.|2.35;2.59;2.58;-1.91;2.37;1.33	6.02|6.02	5.13|5.13	0.70059|0.70059	.|.	.|0.000000	.|0.45606	.|U	.|0.000351	D|D	0.91656|0.91656	0.7363|0.7363	M|M	0.75615|0.75615	2.305|2.305	0.80722|0.80722	D|D	1|1	.|B;D;B;P;P;B	.|0.59767	.|0.402;0.986;0.33;0.589;0.532;0.28	.|B;D;B;B;B;B	.|0.72338	.|0.258;0.977;0.132;0.325;0.259;0.323	D|D	0.91073|0.91073	0.4894|0.4894	5|10	.|0.37606	.|T	.|0.19	-11.3295|-11.3295	16.6928|16.6928	0.85326|0.85326	0.0:0.0:0.8693:0.1306|0.0:0.0:0.8693:0.1306	.|.	.|1130;1131;1076;1131;1130;1130	.|B7ZM78;Q3V6T2-2;D6W5D1;Q3V6T2;Q3V6T2-3;Q3V6T2-4	.|.;.;.;GRDN_HUMAN;.;.	Q|K	111|1130;1131;1131;176;1130;306	.|ENSP00000338728:Q1130K;ENSP00000263630:Q1131K;ENSP00000410608:Q1131K;ENSP00000390012:Q176K;ENSP00000404431:Q1130K;ENSP00000405080:Q306K	.|ENSP00000263630:Q1131K	P|Q	-|-	2|1	0|0	CCDC88A|CCDC88A	55398415|55398415	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.673000|0.673000	0.39480|0.39480	9.623000|9.623000	0.98386|0.98386	1.533000|1.533000	0.49186|0.49186	-0.188000|-0.188000	0.12872|0.12872	CCA|CAG		0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571	
FSIP2	401024	broad.mit.edu;ucsc.edu;mdanderson.org	37	2	186689203	186689203	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr2:186689203A>G	ENST00000424728.1	+	20	20469	c.20469A>G	c.(20467-20469)ttA>ttG	p.L6823L	FSIP2_ENST00000343098.5_Silent_p.L6912L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	6823										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTAAAATATTAGAAGGTTGGA	0.289																																						.											0													114.0	102.0	105.0					2																	186689203		1796	4067	5863	SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.20469A>G	2.37:g.186689203A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	ENST00000424728.1	37																																																																																					0.289	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651	
SLC6A6	6533	broad.mit.edu;bcgsc.ca	37	3	14513818	14513818	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:14513818A>G	ENST00000454876.2	+	10	1531	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	SLC6A6_ENST00000360861.3_Missense_Mutation_p.D401G			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	401					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGGACTGGATAGCCAGGTG	0.537																																						.											0													101.0	93.0	96.0					3																	14513818		2203	4300	6503	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.1202A>G	3.37:g.14513818A>G	ENSP00000398063:p.Asp401Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790541	0.90367	.	.	ENSG00000131389	ENST00000454876;ENST00000360861	T;T	0.74737	-0.87;-0.87	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	D	0.84160	0.5411	M	0.62209	1.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85190	0.1009	10	0.54805	T	0.06	.	15.3455	0.74334	1.0:0.0:0.0:0.0	.	401	P31641	SC6A6_HUMAN	G	401	ENSP00000398063:D401G;ENSP00000354107:D401G	ENSP00000354107:D401G	D	+	2	0	SLC6A6	14488822	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.339000	0.96797	2.021000	0.59480	0.482000	0.46254	GAT		0.537	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043	
SCN10A	6336	broad.mit.edu;mdanderson.org	37	3	38739266	38739266	+	Silent	SNP	G	G	A	rs111535651	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:38739266G>A	ENST00000449082.2	-	27	5444	c.5445C>T	c.(5443-5445)tcC>tcT	p.S1815S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1815					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	CCAACTCCCCGGATTCTCCTA	0.438																																						.											0													66.0	66.0	66.0					3																	38739266		2203	4300	6503	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5445C>T	3.37:g.38739266G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.438	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
LYZL4	131375	broad.mit.edu	37	3	42438812	42438812	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:42438812C>T	ENST00000287748.3	-	5	661	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.R129Q	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	129					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CTGGCAGTACCGGGACCAGGT	0.577																																						.											0													36.0	33.0	34.0					3																	42438812		2199	4294	6493	SO:0001583	missense	131375			BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.386G>A	3.37:g.42438812C>T	ENSP00000287748:p.Arg129Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000287748.3	37	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	C	9.139	1.013375	0.19277	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.44482	0.92;0.92	4.69	-4.11	0.03928	Lysozyme-like domain (1);	1.384820	0.05121	N	0.490651	T	0.24470	0.0593	N	0.25144	0.715	0.20196	N	0.999924	B	0.13594	0.008	B	0.06405	0.002	T	0.18555	-1.0333	10	0.32370	T	0.25	-0.0566	4.8737	0.13646	0.3737:0.1913:0.0:0.4351	.	129	Q96KX0	LYZL4_HUMAN	Q	129	ENSP00000287748:R129Q;ENSP00000387897:R129Q	ENSP00000287748:R129Q	R	-	2	0	LYZL4	42413816	0.311000	0.24536	0.886000	0.34754	0.458000	0.32498	-0.153000	0.10144	-0.456000	0.07043	-0.269000	0.10298	CGG		0.577	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	NM_144634	
CCDC80	151887	broad.mit.edu	37	3	112357042	112357042	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:112357042T>C	ENST00000206423.3	-	2	2664	c.1711A>G	c.(1711-1713)Aag>Gag	p.K571E	CCDC80_ENST00000475181.1_5'Flank|CCDC80_ENST00000439685.2_Missense_Mutation_p.K571E	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	571	Lys-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ttctcagacttcttcatttgc	0.368																																						.											0													166.0	143.0	151.0					3																	112357042		2203	4300	6503	SO:0001583	missense	151887			AY333429	CCDS2968.1	3q13.2	2010-12-24			ENSG00000091986	ENSG00000091986			30649	protein-coding gene	gene with protein product	"""steroid sensitive gene 1"""	608298				15325258, 18178152	Standard	XM_005247135		Approved	URB, SSG1, DRO1	uc003dzf.3	Q76M96	OTTHUMG00000159265	ENST00000206423.3:c.1711A>G	3.37:g.112357042T>C	ENSP00000206423:p.Lys571Glu	Somatic		WXS	Illumina HiSeq	Phase_I	D3DN67|Q5PR20|Q6GPG9|Q8IVT6|Q8NBV1|Q8NHY8	Missense_Mutation	SNP	ENST00000206423.3	37	CCDS2968.1	.	.	.	.	.	.	.	.	.	.	T	17.85	3.489827	0.64074	.	.	ENSG00000091986	ENST00000206423;ENST00000439685;ENST00000444594	T;T	0.51325	0.71;0.71	5.52	5.52	0.82312	.	0.201324	0.50627	D	0.000101	T	0.37598	0.1009	L	0.27053	0.805	0.36946	D	0.89262	P;P;B	0.42692	0.687;0.787;0.355	B;B;B	0.39503	0.301;0.158;0.1	T	0.46359	-0.9197	10	0.42905	T	0.14	-27.697	15.6438	0.77033	0.0:0.0:0.0:1.0	.	582;571;571	Q76M96-2;A3KC71;Q76M96	.;.;CCD80_HUMAN	E	571;571;199	ENSP00000206423:K571E;ENSP00000411814:K571E	ENSP00000206423:K571E	K	-	1	0	CCDC80	113839732	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.304000	0.51866	2.096000	0.63516	0.454000	0.30748	AAG		0.368	CCDC80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354219.1	NM_199511	
B3GALNT1	8706	broad.mit.edu	37	3	160804293	160804293	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:160804293C>T	ENST00000392781.2	-	8	997	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000392779.2_Missense_Mutation_p.V84M|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.V84M|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.V84M	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	84					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273)|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TGGGAGGTCACCAGAATGACC	0.428																																						.											0													89.0	91.0	90.0					3																	160804293		2203	4300	6503	SO:0001583	missense	8706			Y15062	CCDS3193.1	3q25	2014-07-18	2006-06-14	2006-05-09	ENSG00000169255	ENSG00000169255	2.4.1.79	"""Blood group antigens"", ""Beta 3-glycosyltransferases"""	918	protein-coding gene	gene with protein product	"""globoside synthase"", ""P antigen synthase"""	603094	"""UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 3 (Globoside blood group)"", ""UDP-GalNAc:betaGlcNAc beta 1,3-galactosaminyltransferase, polypeptide 1 (Globoside blood group)"""	B3GALT3		9582303, 10993897	Standard	XM_005247861		Approved	beta3Gal-T3, galT3, P1, GLOB	uc003fdv.3	O75752	OTTHUMG00000159064	ENST00000392781.2:c.250G>A	3.37:g.160804293C>T	ENSP00000376532:p.Val84Met	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNM4|Q3Y531|Q6IAI5|Q8NFM8|Q8NFM9|Q9HA06	Missense_Mutation	SNP	ENST00000392781.2	37	CCDS3193.1	.	.	.	.	.	.	.	.	.	.	C	19.07	3.755841	0.69648	.	.	ENSG00000169255	ENST00000320474;ENST00000392779;ENST00000392780;ENST00000392781;ENST00000473285;ENST00000488170;ENST00000468268	T;T;T;T;T;T;T	0.62498	0.41;0.41;0.41;0.41;0.41;0.41;0.02	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000012	T	0.68742	0.3034	N	0.24115	0.695	0.41161	D	0.986093	D	0.76494	0.999	D	0.65987	0.94	T	0.72776	-0.4191	10	0.87932	D	0	.	18.8796	0.92351	0.0:1.0:0.0:0.0	.	84	O75752	B3GL1_HUMAN	M	84	ENSP00000323479:V84M;ENSP00000376530:V84M;ENSP00000376531:V84M;ENSP00000376532:V84M;ENSP00000418226:V84M;ENSP00000420163:V84M;ENSP00000419476:V84M	ENSP00000323479:V84M	V	-	1	0	B3GALNT1	162286987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.252000	0.51461	2.701000	0.92244	0.561000	0.74099	GTG		0.428	B3GALNT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353125.1	NM_033167	
GABRA4	2557	broad.mit.edu;mdanderson.org	37	4	46976325	46976325	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:46976325C>T	ENST00000264318.3	-	6	1627	c.645G>A	c.(643-645)ccG>ccA	p.P215P		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	215					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AAGACTCCTTCGGAACTTCAA	0.398																																					Ovarian(6;283 369 8234 12290 33402)	.											0													118.0	109.0	112.0					4																	46976325		2203	4300	6503	SO:0001819	synonymous_variant	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.645G>A	4.37:g.46976325C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYR7	Silent	SNP	ENST00000264318.3	37	CCDS3473.1																																																																																				0.398	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
PPAT	5471	broad.mit.edu;mdanderson.org	37	4	57265347	57265347	+	Missense_Mutation	SNP	C	C	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:57265347C>G	ENST00000264220.2	-	9	1371	c.1234G>C	c.(1234-1236)Gag>Cag	p.E412Q	PPAT_ENST00000507648.1_5'Flank|RP11-646I6.6_ENST00000602749.1_lincRNA	NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	412					'de novo' IMP biosynthetic process (GO:0006189)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|G1/S transition of mitotic cell cycle (GO:0000082)|glutamine catabolic process (GO:0006543)|kidney development (GO:0001822)|lactation (GO:0007595)|maternal process involved in female pregnancy (GO:0060135)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|organ regeneration (GO:0031100)|protein homotetramerization (GO:0051289)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|amidophosphoribosyltransferase activity (GO:0004044)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				Fluorouracil(DB00544)|L-Glutamine(DB00130)|Mercaptopurine(DB01033)	TTACTTACCTCTTTTGCACCA	0.313																																						.											0													81.0	85.0	84.0					4																	57265347		2202	4300	6502	SO:0001583	missense	5471				CCDS3505.1	4q12	2012-10-02			ENSG00000128059	ENSG00000128059	2.4.2.14		9238	protein-coding gene	gene with protein product		172450					Standard	NM_002703		Approved	GPAT, PRAT	uc003hbr.3	Q06203	OTTHUMG00000128842	ENST00000264220.2:c.1234G>C	4.37:g.57265347C>G	ENSP00000264220:p.Glu412Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000264220.2	37	CCDS3505.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740737	0.89573	.	.	ENSG00000128059	ENST00000264220	D	0.99462	-5.94	5.24	5.24	0.73138	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.99594	0.9853	M	0.88775	2.98	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.98200	1.0467	10	0.72032	D	0.01	-9.1068	19.1864	0.93645	0.0:1.0:0.0:0.0	.	412	Q06203	PUR1_HUMAN	Q	412	ENSP00000264220:E412Q	ENSP00000264220:E412Q	E	-	1	0	PPAT	56960104	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.776000	0.85560	2.606000	0.88127	0.650000	0.86243	GAG		0.313	PPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250781.2	NM_002703	
BBS12	166379	broad.mit.edu	37	4	123663959	123663959	+	Silent	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr4:123663959T>C	ENST00000314218.3	+	2	1105	c.912T>C	c.(910-912)tgT>tgC	p.C304C	BBS12_ENST00000542236.1_Silent_p.C304C	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	304					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGGCAACTGTACAAAACCAT	0.408									Bardet-Biedl syndrome																													.											0													79.0	69.0	72.0					4																	123663959		2203	4300	6503	SO:0001819	synonymous_variant	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.912T>C	4.37:g.123663959T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Silent	SNP	ENST00000314218.3	37	CCDS3728.1																																																																																				0.408	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	NM_152618	
SDHAP3	728609	broad.mit.edu	37	5	1589396	1589396	+	RNA	SNP	A	A	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:1589396A>T	ENST00000436493.2	-	0	482									succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3																		TCATGTTCTTATGCTTCCATC	0.463																																						.											0																																												728609					5p15.33	2014-03-20	2006-11-21	2006-11-21	ENSG00000185986	ENSG00000185986			18781	pseudogene	pseudogene	"""similar to succinate dehydrogenase flavoprotein subunit"""		"""succinate dehydrogenase complex, subunit A, flavoprotein-like"", ""SDHA C-terminal like"""	SDHAL, SDHACL			Standard	NR_003263		Approved		uc011cmd.2		OTTHUMG00000161733		5.37:g.1589396A>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000436493.2	37																																																																																					0.463	SDHAP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000365894.1		
PCSK1	5122	broad.mit.edu	37	5	95746664	95746664	+	Silent	SNP	G	G	A	rs376062034		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:95746664G>A	ENST00000311106.3	-	8	1146	c.909C>T	c.(907-909)ttC>ttT	p.F303F	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Silent_p.F256F|PCSK1_ENST00000513085.1_Intron	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	303	Peptidase S8.				cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGCCCAGACGAAGATGGACC	0.498																																						.											0													142.0	136.0	138.0					5																	95746664		2203	4300	6503	SO:0001819	synonymous_variant	5122				CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.909C>T	5.37:g.95746664G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8T7|E9PHA1|P78478|Q92532	Silent	SNP	ENST00000311106.3	37	CCDS4081.1																																																																																				0.498	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
FBXL17	64839	broad.mit.edu	37	5	107700539	107700539	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:107700539A>G	ENST00000542267.1	-	3	1680	c.1274T>C	c.(1273-1275)cTt>cCt	p.L425P	FBXL17_ENST00000359660.5_Missense_Mutation_p.L27P|FBXL17_ENST00000496714.1_Missense_Mutation_p.L27P	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	425										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGTGTCAGAAAGCTGTTTACA	0.423																																						.											0													128.0	124.0	125.0					5																	107700539		2202	4299	6501	SO:0001583	missense	64839			AL133602	CCDS54886.1	5q21.3	2011-06-09	2004-06-15	2004-06-16	ENSG00000145743	ENSG00000145743		"""F-boxes / Leucine-rich repeats"""	13615	protein-coding gene	gene with protein product		609083	"""F-box only protein 13"""	FBXO13			Standard	NM_001163315		Approved	DKFZP434C1715, Fbx13, Fbl17	uc011cvc.2	Q9UF56	OTTHUMG00000159785	ENST00000542267.1:c.1274T>C	5.37:g.107700539A>G	ENSP00000437464:p.Leu425Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4E3	Missense_Mutation	SNP	ENST00000542267.1	37	CCDS54886.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.404130	0.83230	.	.	ENSG00000145743	ENST00000359660;ENST00000542267;ENST00000496714	T;T;T	0.02737	4.18;4.18;4.18	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.14614	0.0353	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.00139	-1.2001	10	0.87932	D	0	.	15.6111	0.76716	1.0:0.0:0.0:0.0	.	425;27	Q9UF56;Q9UF56-2	FXL17_HUMAN;.	P	27;425;27	ENSP00000352683:L27P;ENSP00000437464:L425P;ENSP00000418111:L27P	ENSP00000352683:L27P	L	-	2	0	FBXL17	107728438	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.870000	0.92336	2.136000	0.66102	0.477000	0.44152	CTT		0.423	FBXL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
PCDHB10	56126	broad.mit.edu;mdanderson.org	37	5	140569001	140569001	+	5'Flank	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:140569001T>C	ENST00000239446.4	+	0	0					NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCCTCTCGGTGCTCCT	0.701																																						.											0													48.0	56.0	53.0					5																	140569001		2175	4215	6390	SO:0001631	upstream_gene_variant	56127			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626		5.37:g.140569001T>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1																																																																																				0.701	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
VN1R10P	387316	broad.mit.edu	37	6	27293740	27293740	+	IGR	DEL	A	A	-	rs574393913	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:27293740delA								POM121L2 (13791 upstream) : ZNF391 (48653 downstream)																							accctgtctgaaaaaaaaaaa	0.358													|||unknown(HR)	101	0.0201677	0.0272	0.0216	5008	,	,		21451	0.0		0.0298	False		,,,				2504	0.0204					.											0																																										SO:0001628	intergenic_variant	387316																															6.37:g.27293740delA		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	DEL		37																																																																																				0	0.358								
FRK	2444	broad.mit.edu	37	6	116325094	116325094	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr6:116325094C>T	ENST00000606080.1	-	2	858	c.412G>A	c.(412-414)Ggt>Agt	p.G138S	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G138R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	AGAAAGGAACCGGTCTTGTTT	0.368																																						.											1	Substitution - Missense(1)	endometrium(1)											86.0	81.0	83.0					6																	116325094		2203	4300	6503	SO:0001583	missense	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.412G>A	6.37:g.116325094C>T	ENSP00000476145:p.Gly138Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DY49|Q13128|Q9NTR5	Missense_Mutation	SNP	ENST00000606080.1	37	CCDS5103.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.361640	0.82353	.	.	ENSG00000111816	ENST00000368626	T	0.75704	-0.96	5.97	5.97	0.96955	SH2 motif (5);	0.000000	0.64402	D	0.000005	T	0.81093	0.4751	H	0.97023	3.925	0.80722	D	1	B	0.30114	0.269	B	0.28232	0.087	T	0.83070	-0.0143	10	0.72032	D	0.01	.	19.9934	0.97376	0.0:1.0:0.0:0.0	.	138	P42685	FRK_HUMAN	S	138	ENSP00000357615:G138S	ENSP00000357615:G138S	G	-	1	0	FRK	116431787	1.000000	0.71417	0.969000	0.41365	0.956000	0.61745	6.360000	0.73064	2.825000	0.97269	0.655000	0.94253	GGT		0.368	FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
PCLO	27445	broad.mit.edu	37	7	82585926	82585926	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:82585926T>C	ENST00000333891.9	-	5	4680	c.4343A>G	c.(4342-4344)gAc>gGc	p.D1448G	PCLO_ENST00000423517.2_Missense_Mutation_p.D1448G	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						TTTCTCTTGGTCTTTAGGCTG	0.363																																						.											0													116.0	108.0	110.0					7																	82585926		1815	4078	5893	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.4343A>G	7.37:g.82585926T>C	ENSP00000334319:p.Asp1448Gly	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	8.525	0.869716	0.17322	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16457	2.34;2.34	5.58	4.42	0.53409	.	.	.	.	.	T	0.16938	0.0407	L	0.42245	1.32	0.80722	D	1	B;B	0.20550	0.011;0.046	B;B	0.22601	0.018;0.04	T	0.02457	-1.1156	9	0.87932	D	0	.	11.5729	0.50845	0.0:0.0701:0.0:0.9299	.	1448;1448	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1379;1448;1448	ENSP00000334319:D1448G;ENSP00000388393:D1448G	ENSP00000334319:D1448G	D	-	2	0	PCLO	82423862	0.998000	0.40836	0.045000	0.18777	0.354000	0.29330	2.943000	0.49026	0.952000	0.37798	0.529000	0.55759	GAC		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
MET	4233	broad.mit.edu	37	7	116411695	116411695	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:116411695A>G	ENST00000318493.6	+	13	3115	c.2928A>G	c.(2926-2928)agA>agG	p.R976R	MET_ENST00000397752.3_Silent_p.R958R			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TGAAAAAGAGAAAGCAAATTA	0.358			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													.		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													101.0	96.0	97.0					7																	116411695		1853	4093	5946	SO:0001819	synonymous_variant	4233	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2928A>G	7.37:g.116411695A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Silent	SNP	ENST00000318493.6	37	CCDS47689.1																																																																																				0.358	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aaafs	p.K2120fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378																																					Ovarian(131;96 1741 5634 7352 27489)	.											2	Deletion - Frameshift(2)	breast(1)|kidney(1)											137.0	130.0	132.0					8																	103289349		2203	4300	6503	SO:0001589	frameshift_variant	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6360delA	8.37:g.103289349delT	ENSP00000429084:p.Lys2120fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Del	DEL	ENST00000520539.1	37	CCDS34933.1																																																																																				0.378	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
OXR1	55074	broad.mit.edu	37	8	107715150	107715150	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:107715150T>C	ENST00000442977.2	+	7	794	c.695T>C	c.(694-696)gTg>gCg	p.V232A	OXR1_ENST00000312046.6_Missense_Mutation_p.V224A|OXR1_ENST00000445937.1_Missense_Mutation_p.V231A|OXR1_ENST00000497705.1_Missense_Mutation_p.V164A|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Missense_Mutation_p.V231A|OXR1_ENST00000517566.2_Missense_Mutation_p.V231A	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	232	GRAM.				adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTCAGTGGTGTGCTGCTAGTT	0.348																																						.											0													88.0	85.0	86.0					8																	107715150		2203	4300	6503	SO:0001583	missense	55074			AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.695T>C	8.37:g.107715150T>C	ENSP00000405424:p.Val232Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Missense_Mutation	SNP	ENST00000442977.2	37	CCDS56548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.3|25.3	4.626540|4.626540	0.87560|0.87560	.|.	.|.	ENSG00000164830|ENSG00000164830	ENST00000517455|ENST00000445937;ENST00000531443;ENST00000517566;ENST00000442977;ENST00000497705;ENST00000312046	.|T;T;T;T;T;T	.|0.34275	.|2.24;2.24;2.23;2.22;1.37;2.25	5.27|5.27	5.27|5.27	0.74061|0.74061	.|GRAM (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59715|0.59715	0.2214|0.2214	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.998;0.999;0.998;0.998	T|T	0.62397|0.62397	-0.6863|-0.6863	5|10	.|0.54805	.|T	.|0.06	-26.8986|-26.8986	15.4811|15.4811	0.75528|0.75528	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|224;232;164;231	.|Q8N573-2;Q8N573;Q8N573-3;Q8N573-5	.|.;OXR1_HUMAN;.;.	R|A	148|231;231;231;232;164;224	.|ENSP00000402918:V231A;ENSP00000431966:V231A;ENSP00000429205:V231A;ENSP00000405424:V232A;ENSP00000431014:V164A;ENSP00000311026:V224A	.|ENSP00000311026:V224A	C|V	+|+	1|2	0|0	OXR1|OXR1	107784326|107784326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.945000|7.945000	0.87732|0.87732	2.116000|2.116000	0.64780|0.64780	0.528000|0.528000	0.53228|0.53228	TGC|GTG		0.348	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_181354	
ST3GAL1	6482	broad.mit.edu;mdanderson.org;bcgsc.ca	37	8	134474162	134474162	+	Missense_Mutation	SNP	T	T	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:134474162T>G	ENST00000319914.5	-	8	1832	c.805A>C	c.(805-807)Acc>Ccc	p.T269P	ST3GAL1_ENST00000522652.1_Missense_Mutation_p.T269P|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.T269P|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.T269P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	269					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			AGGATGCCGGTAGATGGGTAT	0.587																																						.											0													171.0	140.0	151.0					8																	134474162		2203	4300	6503	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.805A>C	8.37:g.134474162T>G	ENSP00000318445:p.Thr269Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709084	0.89018	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.96430	3.82	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83404	0.0024	10	0.72032	D	0.01	-5.3127	14.1925	0.65646	0.0:0.0:0.0:1.0	.	269	Q11201	SIA4A_HUMAN	P	269	ENSP00000318445:T269P;ENSP00000414073:T269P;ENSP00000428540:T269P;ENSP00000430515:T269P	ENSP00000318445:T269P	T	-	1	0	ST3GAL1	134543344	1.000000	0.71417	0.995000	0.50966	0.856000	0.48823	7.996000	0.88334	2.018000	0.59344	0.533000	0.62120	ACC		0.587	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033	
SETX	23064	broad.mit.edu;mdanderson.org	37	9	135203956	135203956	+	Missense_Mutation	SNP	C	C	T	rs370781594		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr9:135203956C>T	ENST00000224140.5	-	10	3211	c.3029G>A	c.(3028-3030)cGt>cAt	p.R1010H	SETX_ENST00000372169.2_Missense_Mutation_p.R1010H|SETX_ENST00000393220.1_Missense_Mutation_p.R1010H	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1010					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AACCTGTCCACGGGAGGTATC	0.388																																						.											0								C	HIS/ARG	0,4406		0,0,2203	103.0	105.0	104.0		3029	-3.9	0.0	9		104	2,8598	2.2+/-6.3	0,2,4298	no	missense	SETX	NM_015046.5	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1010/2678	135203956	2,13004	2203	4300	6503	SO:0001583	missense	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.3029G>A	9.37:g.135203956C>T	ENSP00000224140:p.Arg1010His	Somatic		WXS	Illumina HiSeq	Phase_I	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	ENST00000224140.5	37	CCDS6947.1	.	.	.	.	.	.	.	.	.	.	C	2.490	-0.317689	0.05386	0.0	2.33E-4	ENSG00000107290	ENST00000224140;ENST00000372169;ENST00000393220	D;D;D	0.86497	-2.04;-2.13;-1.74	5.31	-3.86	0.04230	.	9.273830	0.00166	N	0.000000	T	0.70806	0.3266	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.62148	-0.6915	10	0.15066	T	0.55	.	5.3226	0.15889	0.2176:0.3268:0.0:0.4556	.	1010;1010;1010	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	H	1010	ENSP00000224140:R1010H;ENSP00000361242:R1010H;ENSP00000376913:R1010H	ENSP00000224140:R1010H	R	-	2	0	SETX	134193777	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.513000	0.02256	-0.781000	0.04548	-0.768000	0.03414	CGT		0.388	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	NM_015046	
ARHGAP36	158763	broad.mit.edu;mdanderson.org	37	X	130219620	130219620	+	Silent	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219620C>A	ENST00000276211.5	+	8	1359	c.1014C>A	c.(1012-1014)ccC>ccA	p.P338P	ARHGAP36_ENST00000370922.1_Silent_p.P326P|ARHGAP36_ENST00000370921.1_Silent_p.P202P	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	338	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGATGCCACCCTGCCACAGTG	0.507																																						.											0													202.0	204.0	203.0					X																	130219620		2203	4300	6503	SO:0001819	synonymous_variant	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1014C>A	X.37:g.130219620C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Silent	SNP	ENST00000276211.5	37	CCDS14628.1																																																																																				0.507	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
ARHGAP36	158763	broad.mit.edu	37	X	130219622	130219622	+	Missense_Mutation	SNP	G	G	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:130219622G>T	ENST00000276211.5	+	8	1361	c.1016G>T	c.(1015-1017)tGc>tTc	p.C339F	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.C327F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.C203F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	339	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.C339Y(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ATGCCACCCTGCCACAGTGAT	0.512																																						.											1	Substitution - Missense(1)	kidney(1)											199.0	200.0	200.0					X																	130219622		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1016G>T	X.37:g.130219622G>T	ENSP00000276211:p.Cys339Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507094	0.64410	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	4.88	4.88	0.63580	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.126831	0.36972	N	0.002302	T	0.36690	0.0976	M	0.84846	2.72	0.58432	D	0.999998	P;P;D	0.53462	0.95;0.95;0.96	P;P;P	0.59424	0.776;0.776;0.857	T	0.36456	-0.9747	10	0.10111	T	0.7	.	12.1001	0.53778	0.0:0.0:1.0:0.0	.	308;327;339	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	339;327;308;203	ENSP00000276211:C339F;ENSP00000359960:C327F;ENSP00000408515:C308F;ENSP00000359959:C203F	ENSP00000276211:C339F	C	+	2	0	ARHGAP36	130047303	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.348000	0.90064	2.243000	0.73865	0.600000	0.82982	TGC		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967	
MCF2	4168	broad.mit.edu;mdanderson.org	37	X	138698453	138698453	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:138698453A>G	ENST00000370576.4	-	9	1388	c.1179T>C	c.(1177-1179)tcT>tcC	p.S393S	MCF2_ENST00000370573.4_Silent_p.S393S|MCF2_ENST00000370578.4_Silent_p.S538S|MCF2_ENST00000536274.1_Silent_p.S354S|MCF2_ENST00000338585.6_Silent_p.S393S|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000520602.1_Silent_p.S453S|MCF2_ENST00000414978.1_Silent_p.S453S|MCF2_ENST00000519895.1_Silent_p.S453S	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	393					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TAAGCTCAGGAGATAATATTA	0.318																																						.											0													24.0	22.0	23.0					X																	138698453		2200	4275	6475	SO:0001819	synonymous_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1179T>C	X.37:g.138698453A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																				0.318	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
SLC6A8	6535	broad.mit.edu	37	X	152956889	152956889	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:152956889C>T	ENST00000253122.5	+	3	1001	c.525C>T	c.(523-525)acC>acT	p.T175T	SLC6A8_ENST00000430077.2_Silent_p.T60T	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	175					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GTGGCCACACCTGGAACACTC	0.592																																						.											0													72.0	66.0	68.0					X																	152956889		2203	4300	6503	SO:0001819	synonymous_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.525C>T	X.37:g.152956889C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Silent	SNP	ENST00000253122.5	37	CCDS14726.1																																																																																				0.592	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061003.1		
DNHD1	144132	broad.mit.edu	37	11	6566233	6566234	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:6566233_6566234insC	ENST00000527990.2	+	19	4064_4065	c.4064_4065insC	c.(4063-4068)cacttcfs	p.F1356fs	DNHD1_ENST00000254579.6_Frame_Shift_Ins_p.F1356fs			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	1356					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTGTGTGCTCACTTCCCCCGCC	0.579																																						.											0																																										SO:0001589	frameshift_variant	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.4065dupC	11.37:g.6566234_6566234dupC	ENSP00000436180:p.Phe1356fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Frame_Shift_Ins	INS	ENST00000527990.2	37	CCDS44532.1																																																																																				0.579	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
TMEM86A	144110	broad.mit.edu	37	11	18723333	18723334	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:18723333_18723334insG	ENST00000280734.2	+	3	596_597	c.500_501insG	c.(499-504)ctggccfs	p.A168fs		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	168						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						GGGCTGCGGCTGGCCGGGGCAG	0.594																																						.											0																																										SO:0001589	frameshift_variant	144110			BC035692	CCDS7844.1	11p15.1	2005-10-28				ENSG00000151117			26890	protein-coding gene	gene with protein product							Standard	NM_153347		Approved	FLJ90119	uc001moz.1	Q8N2M4		ENST00000280734.2:c.502dupG	11.37:g.18723335_18723335dupG	ENSP00000280734:p.Ala168fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96AJ0	Frame_Shift_Ins	INS	ENST00000280734.2	37	CCDS7844.1																																																																																				0.594	TMEM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387812.1	NM_153347	
GPRIN1	114787	ucsc.edu	37	5	176026122	176026122	+	Silent	SNP	C	C	T	rs142779818|rs550332435|rs3797464|rs371149640|rs386695335	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:176026122C>T	ENST00000303991.4	-	2	891	c.714G>A	c.(712-714)ttG>ttA	p.L238L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	238				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCTTTCTCAAAGACCCAG	0.488																																						.											0													90.0	94.0	93.0					5																	176026122		2171	4246	6417	SO:0001819	synonymous_variant	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.714G>A	5.37:g.176026122C>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	37	CCDS4405.1																																																																																				0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	NM_052899	
GRAMD1C	54762	ucsc.edu	37	3	113594422	113594422	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:113594422A>G	ENST00000358160.4	+	4	843	c.351A>G	c.(349-351)agA>agG	p.R117R	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	117	GRAM.					integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						ACATCTTCAGATGGGAAACTA	0.343																																						.											0													111.0	109.0	110.0					3																	113594422		2203	4300	6503	SO:0001819	synonymous_variant	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.351A>G	3.37:g.113594422A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Silent	SNP	ENST00000358160.4	37	CCDS33826.1																																																																																				0.343	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1	NM_017577	
MIS18A	54069	ucsc.edu;bcgsc.ca	37	21	33642787	33642787	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr21:33642787T>C	ENST00000290130.3	-	3	509	c.455A>G	c.(454-456)tAc>tGc	p.Y152C	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	152					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						CGTGCATCTGTACACGTAGCC	0.428																																						.											0													91.0	79.0	83.0					21																	33642787		2203	4300	6503	SO:0001583	missense	54069			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.455A>G	21.37:g.33642787T>C	ENSP00000290130:p.Tyr152Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.725511	0.30593	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	1.86	0.25419	.	0.146850	0.47455	D	0.000238	T	0.69620	0.3131	M	0.78456	2.415	0.39383	D	0.966298	D	0.89917	1.0	D	0.91635	0.999	T	0.68387	-0.5422	9	0.87932	D	0	-18.7714	4.1683	0.10317	0.3142:0.0849:0.0:0.6008	.	152	Q9NYP9	MS18A_HUMAN	C	152	.	ENSP00000290130:Y152C	Y	-	2	0	MIS18A	32564658	1.000000	0.71417	0.190000	0.23270	0.002000	0.02628	1.856000	0.39389	0.428000	0.26173	-0.451000	0.05528	TAC		0.428	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1	NM_018944	
MOV10	4343	ucsc.edu	37	1	113241049	113241049	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:113241049A>G	ENST00000413052.2	+	16	2847	c.2457A>G	c.(2455-2457)aaA>aaG	p.K819K	MOV10_ENST00000357443.2_Silent_p.K819K|MOV10_ENST00000369645.1_Silent_p.K819K|MOV10_ENST00000369644.1_Silent_p.K763K|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000468624.1_3'UTR	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	819					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		AGAAGGGCAAAGCTCGCCTGA	0.607																																						.											0													60.0	48.0	52.0					1																	113241049		2203	4300	6503	SO:0001819	synonymous_variant	4343			AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2457A>G	1.37:g.113241049A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Silent	SNP	ENST00000413052.2	37	CCDS853.1																																																																																				0.607	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963	
NTSR1	4923	ucsc.edu	37	20	61340870	61340870	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:61340870A>G	ENST00000370501.3	+	1	682	c.311A>G	c.(310-312)cAc>cGc	p.H104R		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	104					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GTGCATTACCACCTGGGCAGC	0.667																																					GBM(37;400 780 6403 19663 35669)	.											0													62.0	55.0	58.0					20																	61340870		2203	4300	6503	SO:0001583	missense	4923				CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.311A>G	20.37:g.61340870A>G	ENSP00000359532:p.His104Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154838	0.57259	.	.	ENSG00000101188	ENST00000370501	T	0.72051	-0.62	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.115441	0.64402	D	0.000019	D	0.83566	0.5282	M	0.78456	2.415	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.85652	0.1283	10	0.62326	D	0.03	-41.695	14.2424	0.65966	1.0:0.0:0.0:0.0	.	104	P30989	NTR1_HUMAN	R	104	ENSP00000359532:H104R	ENSP00000359532:H104R	H	+	2	0	NTSR1	60811315	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	9.140000	0.94607	1.852000	0.53769	0.459000	0.35465	CAC		0.667	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1		
ZZEF1	23140	ucsc.edu;bcgsc.ca	37	17	3981271	3981271	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:3981271C>T	ENST00000381638.2	-	19	3019	c.2895G>A	c.(2893-2895)tgG>tgA	p.W965*	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	965							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTGGACGGACCAGAACAGGG	0.547																																						.											0													81.0	74.0	77.0					17																	3981271		2203	4300	6503	SO:0001587	stop_gained	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2895G>A	17.37:g.3981271C>T	ENSP00000371051:p.Trp965*	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Nonsense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	C	41	9.003988	0.99033	.	.	ENSG00000074755	ENST00000381638	.	.	.	5.98	5.01	0.66863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0904	15.0566	0.71917	0.0:0.9322:0.0:0.0678	.	.	.	.	X	965	.	ENSP00000371051:W965X	W	-	3	0	ZZEF1	3928020	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.276000	0.78559	1.537000	0.49254	0.591000	0.81541	TGG		0.547	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
ANKRD20A1	84210	mdanderson.org	37	9	67938655	67938655	+	Missense_Mutation	SNP	T	T	C	rs199656293	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr9:67938655T>C	ENST00000377477.2	+	6	902	c.790T>C	c.(790-792)Tca>Cca	p.S264P	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	264						plasma membrane (GO:0005886)				kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AAAGGAGAAATCAGGTAAGAC	0.264																																						.											0													10.0	13.0	12.0					9																	67938655		1494	3078	4572	SO:0001583	missense	441425			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.790T>C	9.37:g.67938655T>C	ENSP00000366697:p.Ser264Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	3.407	-0.121042	0.06838	.	.	ENSG00000196774	ENST00000377477	T	0.37752	1.18	1.32	-1.45	0.08828	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21211	-1.0252	9	0.29301	T	0.29	.	4.2684	0.10775	0.0:0.4658:0.0:0.5342	.	264	Q5TYW2	A20A1_HUMAN	P	264	ENSP00000366697:S264P	ENSP00000366697:S264P	S	+	1	0	ANKRD20A1	67528475	0.006000	0.16342	0.078000	0.20375	0.171000	0.22731	-0.450000	0.06803	-0.404000	0.07610	0.055000	0.15244	TCA		0.264	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1		
BAGE2	85319	mdanderson.org	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						.											0													100.0	79.0	86.0					21																	11058168		692	1591	2283			85319			AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37																																																																																					0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482	
CYP11B1	1584	mdanderson.org	37	8	143957129	143957129	+	Splice_Site	SNP	G	G	T	rs61752786	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:143957129G>T	ENST00000292427.4	-	6	1152	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	CYP11B1_ENST00000377675.3_Splice_Site_p.R445R|CYP11B1_ENST00000517471.1_Splice_Site_p.R374R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	374			R -> Q (in AH4).		aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	AGCACCCACCGCAAGGTCTCC	0.672									Familial Hyperaldosteronism type I																													.											0								T	,	13,4393		0,13,2190	43.0	45.0	45.0		1120,1120	1.7	1.0	8	dbSNP_129	45	216,8384		3,210,4087	no	coding-synonymous-near-splice,coding-synonymous-near-splice	CYP11B1	NM_000497.3,NM_001026213.1	,	3,223,6277	TT,TG,GG		2.5116,0.2951,1.7607	,	374/504,374/438	143957129	229,12777	2203	4300	6503	SO:0001630	splice_region_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1121+1C>A	8.37:g.143957129G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.672	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		Silent
CYP11B1	1584	mdanderson.org	37	8	143957151	143957151	+	Silent	SNP	A	A	C	rs61752769	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:143957151A>C	ENST00000292427.4	-	6	1130	c.1098T>G	c.(1096-1098)cgT>cgG	p.R366R	CYP11B1_ENST00000377675.3_Silent_p.R437R|CYP11B1_ENST00000517471.1_Silent_p.R366R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	366					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TGAGGGCCGCACGCAGCAAGG	0.692									Familial Hyperaldosteronism type I				.|||	96	0.0191693	0.0613	0.0043	5008	,	,		16429	0.002		0.002	False		,,,				2504	0.0082					.											0													63.0	65.0	64.0					8																	143957151		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1098T>G	8.37:g.143957151A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.692	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
DDX11	1663	mdanderson.org	37	12	31247692	31247692	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:31247692C>T	ENST00000407793.2	+	14	1669	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.T473M|DDX11_ENST00000350437.4_Missense_Mutation_p.T473M|DDX11_ENST00000545668.1_Missense_Mutation_p.T473M|DDX11_ENST00000228264.6_Missense_Mutation_p.T447M	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	473					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTCAGGGACGGAGCTGAAG	0.512										Multiple Myeloma(12;0.14)																												.											0													37.0	38.0	38.0					12																	31247692		2202	4280	6482	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1418C>T	12.37:g.31247692C>T	ENSP00000384703:p.Thr473Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158393	0.38119	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	D;T;D;T;T	0.91740	-2.9;0.54;-2.9;0.54;0.54	3.23	2.33	0.28932	.	0.502768	0.22867	N	0.054667	D	0.94062	0.8097	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.66084	0.941;0.924;0.911;0.941	D	0.91770	0.5427	9	0.44086	T	0.13	.	8.1231	0.30982	0.0:0.8744:0.0:0.1256	.	447;473;473;473	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	M	473;473;198;447;473;473	ENSP00000443426:T473M;ENSP00000384703:T473M;ENSP00000228264:T447M;ENSP00000440402:T473M;ENSP00000309965:T473M	ENSP00000228264:T447M	T	+	2	0	DDX11	31138959	0.936000	0.31750	0.959000	0.39883	0.636000	0.38137	1.961000	0.40432	0.556000	0.29098	-0.362000	0.07510	ACG		0.512	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	
FAM86C1	55199	mdanderson.org	37	11	71507083	71507083	+	Silent	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:71507083G>A	ENST00000359244.4	+	4	305	c.282G>A	c.(280-282)aaG>aaA	p.K94K	FAM86C1_ENST00000346333.6_Silent_p.K60K|FAM86C1_ENST00000426628.2_Silent_p.K87K	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1	94										lung(1)	1						TTGCCCAGAAGCCATCGTGTC	0.612																																						.											0													44.0	48.0	46.0					11																	71507083		2199	4288	6487	SO:0001819	synonymous_variant	55199			AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.282G>A	11.37:g.71507083G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N5D3	Silent	SNP	ENST00000359244.4	37	CCDS41686.1																																																																																				0.612	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563	
FRG1B	284802	mdanderson.org	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E|FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						.											0																																										SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu	Somatic		WXS	Illumina HiSeq	Phase_I	C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
GGT1	2678	mdanderson.org	37	22	25023406	25023406	+	Missense_Mutation	SNP	G	G	A	rs201401901	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr22:25023406G>A	ENST00000400382.1	+	12	1783	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	GGT1_ENST00000404532.1_5'UTR|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_5'UTR|GGT1_ENST00000400380.1_Missense_Mutation_p.R343H|GGT1_ENST00000406383.2_Missense_Mutation_p.R343H|GGT1_ENST00000404920.1_5'Flank|GGT1_ENST00000400383.1_Missense_Mutation_p.R343H|GGT1_ENST00000248923.4_Missense_Mutation_p.R343H|GGT1_ENST00000403838.1_5'UTR|GGT1_ENST00000401885.1_5'UTR			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	343					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CAGGTGGTCCGCAACATGACC	0.642																																						.											0																																										SO:0001583	missense	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1028G>A	22.37:g.25023406G>A	ENSP00000383232:p.Arg343His	Somatic		WXS	Illumina HiSeq	Phase_I	Q08247|Q14404|Q8TBS1|Q9UMK1	Missense_Mutation	SNP	ENST00000400382.1	37	CCDS42992.1	.	.	.	.	.	.	.	.	.	.	.	10.59	1.391735	0.25118	.	.	ENSG00000100031	ENST00000248923;ENST00000412658;ENST00000400382;ENST00000400383;ENST00000400380;ENST00000406383	T;T;T;T;T;T	0.06933	3.24;3.24;3.24;3.24;3.24;3.24	3.4	-6.79	0.01715	.	0.600559	0.16428	N	0.214821	T	0.07143	0.0181	M	0.69463	2.115	0.21740	N	0.999564	B	0.24920	0.114	B	0.18561	0.022	T	0.16897	-1.0387	10	0.33141	T	0.24	-18.4417	7.7103	0.28673	0.5724:0.1197:0.3079:0.0	.	343	P19440	GGT1_HUMAN	H	343	ENSP00000248923:R343H;ENSP00000393537:R343H;ENSP00000383232:R343H;ENSP00000383233:R343H;ENSP00000383231:R343H;ENSP00000385975:R343H	ENSP00000248923:R343H	R	+	2	0	GGT1	23353406	0.007000	0.16637	0.525000	0.27900	0.904000	0.53231	-0.004000	0.12878	-1.203000	0.02652	-0.708000	0.03648	CGC		0.642	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
IKBIP	121457	mdanderson.org	37	12	99019897	99019897	+	Intron	SNP	C	C	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:99019897C>A	ENST00000342502.2	-	2	709				IKBIP_ENST00000420861.1_Intron|IKBIP_ENST00000299157.4_Silent_p.V315V|IKBIP_ENST00000393042.3_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTATTTCAGACACTGCTTTCA	0.338																																						.											0													82.0	78.0	79.0					12																	99019897		2203	4299	6502	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8176G>T	12.37:g.99019897C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	CCDS9067.1																																																																																				0.338	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687	
KRTAP1-1	81851	mdanderson.org	37	17	39197485	39197485	+	Silent	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:39197485A>G	ENST00000306271.4	-	1	228	c.165T>C	c.(163-165)tgT>tgC	p.C55C		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	55			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TAGGAAATCCACAGAAGCTGG	0.602																																						.											0													83.0	92.0	89.0					17																	39197485		2026	4210	6236	SO:0001819	synonymous_variant	81851			AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.165T>C	17.37:g.39197485A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																				0.602	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967	
KRTAP1-1	81851	mdanderson.org	37	17	39197593	39197593	+	Silent	SNP	G	G	T	rs145621540		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr17:39197593G>T	ENST00000306271.4	-	1	120	c.57C>A	c.(55-57)acC>acA	p.T19T		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	19			Missing (in allele KAP1.7). {ECO:0000269|PubMed:11841537}.|PSCSTSGTCGSSCCQPSCCETSSCQPRCCETSCCQPSCCQT SFCGFP -> R (in allele KAP1.6).			keratin filament (GO:0045095)				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGAGCCGCAGGTCCCACTGG	0.607																																						.											0													41.0	52.0	48.0					17																	39197593		1960	4168	6128	SO:0001819	synonymous_variant	81851			AJ406926	CCDS42324.1	17q21.2	2014-06-05			ENSG00000188581	ENSG00000188581		"""Keratin associated proteins"""	16772	protein-coding gene	gene with protein product		608819				11279113	Standard	NM_030967		Approved	KAP1.1B, HB2A, KAP1.1, KAP1.1A	uc002hvw.1	Q07627	OTTHUMG00000133592	ENST00000306271.4:c.57C>A	17.37:g.39197593G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NC32|Q96S60|Q96S67	Silent	SNP	ENST00000306271.4	37	CCDS42324.1																																																																																				0.607	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257696.1	NM_030967	
MUC16	94025	mdanderson.org	37	19	8999462	8999462	+	Silent	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:8999462C>T	ENST00000397910.4	-	56	40916	c.40713G>A	c.(40711-40713)ctG>ctA	p.L13571L	MUC16_ENST00000380951.5_Silent_p.L212L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13573	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAGCTGGCTCAGCTCCCAGT	0.567																																						.											0													203.0	172.0	182.0					19																	8999462		2050	4202	6252	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40713G>A	19.37:g.8999462C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC20	200958	mdanderson.org	37	3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:195453332G>A	ENST00000447234.2	+	2	1984	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MUC20_ENST00000320736.6_Missense_Mutation_p.G449R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612																																						.											0																																										SO:0001583	missense	200958			AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1858G>A	3.37:g.195453332G>A	ENSP00000414350:p.Gly620Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553505|1.553505	0.27739|0.27739	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|T	0.13901|0.21932	2.97;2.98;3.15;2.55|1.98	4.83|4.83	2.02|2.02	0.26589|0.26589	.|.	1.113110|.	0.06939|.	N|.	0.812407|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P|.	0.35844|.	0.524|.	B|.	0.38500|.	0.275|.	T|T	0.37407|0.37407	-0.9707|-0.9707	10|7	0.17369|0.19147	T|T	0.5|0.46	1.6052|1.6052	6.2028|6.2028	0.20585|0.20585	0.3217:0.0:0.6783:0.0|0.3217:0.0:0.6783:0.0	.|.	449|.	E9PH32|.	.|.	R|K	431;620;449;620;585|31	ENSP00000414350:G620R;ENSP00000325431:G449R;ENSP00000396774:G620R;ENSP00000405629:G585R|ENSP00000397774:R31K	ENSP00000325431:G449R|ENSP00000397774:R31K	G|R	+|+	1|2	0|0	MUC20|MUC20	196939003|196939003	0.024000|0.024000	0.19004|0.19004	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.013000|1.013000	0.29937|0.29937	0.320000|0.320000	0.23234|0.23234	-0.140000|-0.140000	0.14226|0.14226	GGG|AGG		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673	
MUC5B	727897	mdanderson.org	37	11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S3410N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcagcacAGTGACT	0.682																																						.											1	Substitution - Missense(1)	prostate(1)											41.0	76.0	64.0					11																	1268402		2093	4144	6237	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
OR4A5	81318	mdanderson.org	37	11	51412043	51412043	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:51412043C>T	ENST00000319760.6	-	1	405	c.353G>A	c.(352-354)tGt>tAt	p.C118Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	118						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAGCGATCACAGGCCATCAC	0.468																																						.											0													71.0	68.0	69.0					11																	51412043		2201	4296	6497	SO:0001583	missense	81318			AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.353G>A	11.37:g.51412043C>T	ENSP00000367664:p.Cys118Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.423436	0.00013	.	.	ENSG00000221840	ENST00000319760	T	0.02944	4.1	1.93	-0.94	0.10405	GPCR, rhodopsin-like superfamily (1);	0.337598	0.21438	N	0.074538	T	0.00384	0.0012	N	0.00009	-3.08	0.23107	N	0.998289	B	0.02656	0.0	B	0.01281	0.0	T	0.45804	-0.9236	10	0.02654	T	1	.	5.5659	0.17170	0.0:0.3083:0.0:0.6917	.	118	Q8NH83	OR4A5_HUMAN	Y	118	ENSP00000367664:C118Y	ENSP00000367664:C118Y	C	-	2	0	OR4A5	51268619	0.534000	0.26362	0.997000	0.53966	0.143000	0.21401	0.263000	0.18478	-0.164000	0.10927	-1.252000	0.01501	TGT		0.468	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
OR5M8	219484	mdanderson.org	37	11	56258310	56258310	+	Silent	SNP	C	C	T	rs150358569	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr11:56258310C>T	ENST00000327216.2	-	1	561	c.537G>A	c.(535-537)gcG>gcA	p.A179A		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GTGGTGGGTCCGCACAGTAGA	0.473													C|||	2	0.000399361	0.0	0.0	5008	,	,		18449	0.0		0.002	False		,,,				2504	0.0					.											0													93.0	92.0	93.0					11																	56258310		2201	4296	6497	SO:0001819	synonymous_variant	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.537G>A	11.37:g.56258310C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RNM5|Q6IEW3|Q96RB8	Silent	SNP	ENST00000327216.2	37	CCDS31533.1																																																																																				0.473	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282	
TAS2R43	259289	mdanderson.org	37	12	11244435	11244435	+	Missense_Mutation	SNP	T	T	C	rs11526470		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr12:11244435T>C	ENST00000531678.1	-	1	477	c.394A>G	c.(394-396)Atg>Gtg	p.M132V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	132					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		CCCAACAACATCACCAGAATG	0.363																																						.											0								T	VAL/MET	408,3464		164,80,1692	64.0	58.0	60.0		394	2.0	0.0	12	dbSNP_132	60	1419,6771		564,291,3240	no	missense	TAS2R43	NM_176884.2	21	728,371,4932	CC,CT,TT		17.326,10.5372,15.1467	benign	132/310	11244435	1827,10235	1936	4095	6031	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.394A>G	12.37:g.11244435T>C	ENSP00000431719:p.Met132Val	Somatic		WXS	Illumina HiSeq	Phase_I	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	.	.	.	.	.	.	.	.	.	.	-	3.576	-0.086637	0.07097	0.105372	0.17326	ENSG00000255374	ENST00000531678	T	0.00737	5.76	1.97	1.97	0.26223	.	.	.	.	.	T	0.00012	0.0000	L	0.58510	1.815	0.80722	P	0.0	B	0.02656	0.0	B	0.06405	0.002	T	0.31364	-0.9946	8	0.35671	T	0.21	.	5.8653	0.18771	0.0:0.0:0.0:1.0	.	132	P59537	T2R43_HUMAN	V	132	ENSP00000431719:M132V	ENSP00000431719:M132V	M	-	1	0	TAS2R43	11135702	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	-0.179000	0.09768	0.902000	0.36520	0.155000	0.16302	ATG		0.363	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884	
VCX3A	51481	mdanderson.org	37	X	6451843	6451843	+	Silent	SNP	G	G	A	rs199720302		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chrX:6451843G>A	ENST00000381089.3	-	3	810	c.504C>T	c.(502-504)agC>agT	p.S168S	VCX3A_ENST00000398729.1_Silent_p.S148S	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	168	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development (GO:0007420)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|lung(2)|pancreas(1)	4						CCTCCACCTGGCTCTCCTGAC	0.577																																						.											0													170.0	159.0	163.0					X																	6451843		2203	4292	6495	SO:0001819	synonymous_variant	51481			AF159128	CCDS35199.1	Xp22.31	2008-02-05	2005-01-11	2005-01-12	ENSG00000169059	ENSG00000169059			18159	protein-coding gene	gene with protein product		300533	"""variable charge, X-linked 3"""	VCX3		10607842	Standard	NM_016379		Approved	VCX-8r, VCX-8R, VCX-A	uc004crs.3	Q9NNX9	OTTHUMG00000021097	ENST00000381089.3:c.504C>T	X.37:g.6451843G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P0H4	Silent	SNP	ENST00000381089.3	37	CCDS35199.1																																																																																				0.577	VCX3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055679.1	NM_016379	
WIPF3	644150	mdanderson.org	37	7	29923572	29923572	+	Silent	SNP	T	T	C	rs28439342	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr7:29923572T>C	ENST00000409290.1	+	4	462	c.462T>C	c.(460-462)aaT>aaC	p.N154N	WIPF3_ENST00000409123.1_Silent_p.N154N|WIPF3_ENST00000242140.5_Silent_p.N154N	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	154					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)				breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						GGCTAGGCAATACCTCCGAGG	0.721													T|||	805	0.160743	0.2859	0.1081	5008	,	,		5568	0.0308		0.1769	False		,,,				2504	0.1462					.											0								T		655,2473		59,537,968	3.0	4.0	4.0		462	-0.9	0.0	7	dbSNP_125	4	938,6434		63,812,2811	no	coding-synonymous	WIPF3	NM_001080529.2		122,1349,3779	CC,CT,TT		12.7238,20.9399,15.1714		154/484	29923572	1593,8907	1564	3686	5250	SO:0001819	synonymous_variant	644150			AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.462T>C	7.37:g.29923572T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZV2	Silent	SNP	ENST00000409290.1	37	CCDS56472.1																																																																																				0.721	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1		
ZNF492	57615	mdanderson.org	37	19	22836805	22836805	+	Missense_Mutation	SNP	G	G	A	rs200144130		TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:22836805G>A	ENST00000456783.2	+	3	362	c.118G>A	c.(118-120)Gct>Act	p.A40T		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A40T(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGAGATGGTAGCTGAACCCCC	0.408																																						.											2	Substitution - Missense(2)	prostate(2)																																								SO:0001583	missense	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.118G>A	19.37:g.22836805G>A	ENSP00000413660:p.Ala40Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	10.18	1.279365	0.23307	.	.	ENSG00000229676	ENST00000456783	T	0.07688	3.17	0.458	0.458	0.16670	Krueppel-associated box (1);	.	.	.	.	T	0.13372	0.0324	M	0.72576	2.205	0.09310	N	1	P	0.45011	0.848	P	0.46585	0.521	T	0.13899	-1.0492	8	0.42905	T	0.14	.	.	.	.	.	40	Q9P255	ZN492_HUMAN	T	40	ENSP00000413660:A40T	ENSP00000413660:A40T	A	+	1	0	ZNF492	22628645	0.064000	0.20934	0.002000	0.10522	0.002000	0.02628	1.318000	0.33643	0.482000	0.27582	0.484000	0.47621	GCT		0.408	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
CR2	1380	bcgsc.ca	37	1	207644142	207644142	+	Missense_Mutation	SNP	G	G	A	rs183067414	byFrequency	TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr1:207644142G>A	ENST00000367058.3	+	7	1472	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	CR2_ENST00000458541.2_Missense_Mutation_p.R428H|CR2_ENST00000367059.3_Missense_Mutation_p.R428H|CR2_ENST00000367057.3_Missense_Mutation_p.R428H	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	428	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CACATGGTCCGCTTTGACCCT	0.453													G|||	4	0.000798722	0.0015	0.0029	5008	,	,		19590	0.0		0.0	False		,,,				2504	0.0					.											0													85.0	84.0	85.0					1																	207644142		2203	4300	6503	SO:0001583	missense	1380			M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1283G>A	1.37:g.207644142G>A	ENSP00000356025:p.Arg428His	Somatic		WXS	Illumina HiSeq	Phase_I	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	CCDS1478.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	9.287	1.049735	0.19827	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	4.57	-0.802	0.10889	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.66307	0.2776	L	0.46741	1.465	0.09310	N	0.999996	P;D;D	0.69078	0.589;0.997;0.996	B;D;D	0.63877	0.141;0.919;0.912	T	0.56860	-0.7909	9	0.45353	T	0.12	.	8.0768	0.30720	0.48:0.0:0.52:0.0	.	428;428;428	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	H	428	ENSP00000356025:R428H;ENSP00000356024:R428H;ENSP00000356026:R428H;ENSP00000404222:R428H	ENSP00000356024:R428H	R	+	2	0	CR2	205710765	0.001000	0.12720	0.124000	0.21820	0.035000	0.12851	-0.548000	0.06048	-0.243000	0.09653	-0.793000	0.03317	CGC		0.453	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
AHSA1	10598	bcgsc.ca	37	14	77926108	77926112	+	Frame_Shift_Del	DEL	CTTAT	CTTAT	-			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	CTTAT	CTTAT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr14:77926108_77926112delCTTAT	ENST00000216479.3	+	2	390_394	c.230_234delCTTAT	c.(229-234)ccttatfs	p.PY77fs	VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|VIPAS39_ENST00000327028.4_5'Flank|AHSA1_ENST00000535854.2_Frame_Shift_Del_p.PY77fs|VIPAS39_ENST00000553888.1_5'Flank|AHSA1_ENST00000555517.1_Frame_Shift_Del_p.PY77fs|VIPAS39_ENST00000448935.2_5'Flank|AHSA1_ENST00000555457.1_3'UTR|VIPAS39_ENST00000556909.1_5'Flank|VIPAS39_ENST00000557658.1_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	77					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AAAGGGAAACTTATCTTCTTTTATG	0.429																																						.											0																																										SO:0001589	frameshift_variant	10598			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.230_234delCTTAT	14.37:g.77926108_77926112delCTTAT	ENSP00000216479:p.Pro77fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9L2|B4DUR9|Q96IL6|Q9P060	Frame_Shift_Del	DEL	ENST00000216479.3	37	CCDS9863.1																																																																																				0.429	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414017.1	NM_012111	
NUCB1	4924	bcgsc.ca	37	19	49416771	49416771	+	Missense_Mutation	SNP	A	A	G			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr19:49416771A>G	ENST00000405315.4	+	7	1041	c.707A>G	c.(706-708)gAt>gGt	p.D236G	NUCB1_ENST00000263273.5_Missense_Mutation_p.D236G|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.D236G	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	236	Binds to GNAI2 and GNAI3. {ECO:0000250}.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GAGGAGCTGGATGGACTGGAC	0.557																																						.											0													113.0	91.0	99.0					19																	49416771		2203	4300	6503	SO:0001583	missense	4924			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.707A>G	19.37:g.49416771A>G	ENSP00000385923:p.Asp236Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD64|Q15838|Q7Z4J7|Q9BUR1	Missense_Mutation	SNP	ENST00000405315.4	37	CCDS12740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.422159|4.422159	0.83559|0.83559	.|.	.|.	ENSG00000104805|ENSG00000104805	ENST00000405315;ENST00000407032;ENST00000452087;ENST00000263273|ENST00000424608	D;D;D|.	0.83914|.	-1.78;-1.78;-1.78|.	4.81|4.81	4.81|4.81	0.61882|0.61882	EF-hand-like domain (1);|.	0.044689|.	0.85682|.	D|.	0.000000|.	T|T	0.79215|0.79215	0.4408|0.4408	M|M	0.89095|0.89095	3.005|3.005	0.80722|0.80722	D|D	1|1	D;D|.	0.63046|.	0.992;0.992|.	P;P|.	0.62382|.	0.901;0.901|.	T|T	0.82892|0.82892	-0.0232|-0.0232	10|5	0.87932|.	D|.	0|.	.|.	13.0021|13.0021	0.58681|0.58681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	236;236|.	Q02818;Q53GX6|.	NUCB1_HUMAN;.|.	G|V	236|206	ENSP00000385923:D236G;ENSP00000385211:D236G;ENSP00000263273:D236G|.	ENSP00000263273:D236G|.	D|M	+|+	2|1	0|0	NUCB1|NUCB1	54108583|54108583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	8.805000|8.805000	0.91925|0.91925	2.124000|2.124000	0.65301|0.65301	0.444000|0.444000	0.29173|0.29173	GAT|ATG		0.557	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184	
RASSF2	9770	bcgsc.ca	37	20	4773205	4773205	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr20:4773205T>C	ENST00000379400.3	-	6	551	c.356A>G	c.(355-357)gAc>gGc	p.D119G	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Missense_Mutation_p.D119G	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	119					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TGGCATCTGGTCACCCTCCGG	0.537																																					Melanoma(158;1891 3343 50738)	.											0													73.0	66.0	68.0					20																	4773205		2203	4300	6503	SO:0001583	missense	9770			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.356A>G	20.37:g.4773205T>C	ENSP00000368710:p.Asp119Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Missense_Mutation	SNP	ENST00000379400.3	37	CCDS13083.1	.	.	.	.	.	.	.	.	.	.	T	9.762	1.170244	0.21621	.	.	ENSG00000101265	ENST00000379400;ENST00000379376	T;T	0.10099	2.91;2.91	5.29	4.16	0.48862	.	2.250110	0.01224	N	0.008198	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29941	-0.9995	10	0.29301	T	0.29	.	8.9967	0.36057	0.1708:0.0:0.0:0.8292	.	119	P50749	RASF2_HUMAN	G	119	ENSP00000368710:D119G;ENSP00000368684:D119G	ENSP00000368684:D119G	D	-	2	0	RASSF2	4721205	0.074000	0.21230	0.007000	0.13788	0.022000	0.10575	1.774000	0.38573	0.990000	0.38787	0.482000	0.46254	GAC		0.537	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077828.1	NM_014737	
ATR	545	bcgsc.ca	37	3	142180902	142180902	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr3:142180902T>C	ENST00000350721.4	-	42	7193	c.7072A>G	c.(7072-7074)Aga>Gga	p.R2358G	ATR_ENST00000383101.3_Missense_Mutation_p.R2294G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2358	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TGAAGTTCTCTTCTACGAGAC	0.308								Other conserved DNA damage response genes																														.											0													106.0	107.0	107.0					3																	142180902		2203	4298	6501	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7072A>G	3.37:g.142180902T>C	ENSP00000343741:p.Arg2358Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.51|18.51	3.640205|3.640205	0.67244|0.67244	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000513291|ENST00000350721;ENST00000383101	.|D;D	.|0.90788	.|-2.73;-2.73	5.34|5.34	2.85|2.85	0.33270|0.33270	.|Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95686|0.95686	0.8597|0.8597	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.95467|0.95467	0.8548|0.8548	5|10	.|0.87932	.|D	.|0	-19.2197|-19.2197	13.3797|13.3797	0.60761|0.60761	0.0:0.0:0.4616:0.5384|0.0:0.0:0.4616:0.5384	.|.	.|2358	.|Q13535	.|ATR_HUMAN	R|G	204|2358;2294	.|ENSP00000343741:R2358G;ENSP00000372581:R2294G	.|ENSP00000343741:R2358G	K|R	-|-	2|1	0|2	ATR|ATR	143663592|143663592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.769000|1.769000	0.38522|0.38522	0.380000|0.380000	0.24823|0.24823	0.533000|0.533000	0.62120|0.62120	AAG|AGA		0.308	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
ZFP62	643836	bcgsc.ca	37	5	180277728	180277728	+	Missense_Mutation	SNP	C	C	T			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr5:180277728C>T	ENST00000502412.1	-	2	824	c.767G>A	c.(766-768)gGt>gAt	p.G256D	ZFP62_ENST00000359141.6_Missense_Mutation_p.G196D|ZFP62_ENST00000512132.1_Missense_Mutation_p.G223D|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCACACTCACCACATTCATA	0.483																																						.											0													29.0	27.0	28.0					5																	180277728		692	1591	2283	SO:0001583	missense	643836			AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.767G>A	5.37:g.180277728C>T	ENSP00000423820:p.Gly256Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	ENST00000502412.1	37	CCDS54955.1	.	.	.	.	.	.	.	.	.	.	.	6.784	0.513639	0.12944	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412;ENST00000405851	T;T;T	0.07444	3.19;3.19;3.19	4.06	4.06	0.47325	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05456	0.0144	N	0.04275	-0.24	0.22968	N	0.998499	P	0.43231	0.801	P	0.46110	0.504	T	0.39099	-0.9630	9	0.19590	T	0.45	.	10.1269	0.42654	0.0:0.7965:0.2035:0.0	.	256	Q8NB50	ZFP62_HUMAN	D	223;196;256;50	ENSP00000426193:G223D;ENSP00000352053:G196D;ENSP00000423820:G256D	ENSP00000352053:G196D	G	-	2	0	ZFP62	180210334	0.000000	0.05858	1.000000	0.80357	0.263000	0.26337	-0.438000	0.06905	2.549000	0.85964	0.542000	0.68232	GGT		0.483	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368386.2	NM_152283	
SORBS3	10174	bcgsc.ca	37	8	22426778	22426778	+	Missense_Mutation	SNP	T	T	C			TCGA-KL-8324-01A-11D-2310-10	TCGA-KL-8324-11A-01D-2310-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	47e52141-87f5-4718-8497-950711774cd8	5831a933-9b5f-4f33-94d8-ba2a844f27ef	g.chr8:22426778T>C	ENST00000240123.7	+	17	1806	c.1423T>C	c.(1423-1425)Ttc>Ctc	p.F475L	SORBS3_ENST00000428103.1_Missense_Mutation_p.F133L|SORBS3_ENST00000523740.1_3'UTR|RP11-582J16.3_ENST00000517384.1_RNA	NM_005775.4	NP_005766.3	O60504	VINEX_HUMAN	sorbin and SH3 domain containing 3	475	Binds to vinculin.|SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|muscle contraction (GO:0006936)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of stress fiber assembly (GO:0051496)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)	18		Prostate(55;0.0421)|Breast(100;0.102)		BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GGAGCTGTCCTTCCGCAAGGT	0.562																																						.											0													36.0	32.0	34.0					8																	22426778		2203	4300	6503	SO:0001583	missense	10174				CCDS6031.1	8p21.3	2008-02-05			ENSG00000120896	ENSG00000120896			30907	protein-coding gene	gene with protein product		610795				9885244, 12510380	Standard	NM_001018003		Approved	SCAM-1, SH3D4, vinexin	uc003xbv.3	O60504	OTTHUMG00000131728	ENST00000240123.7:c.1423T>C	8.37:g.22426778T>C	ENSP00000240123:p.Phe475Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5BJE4|Q6NX54|Q96FY4|Q9UQE4	Missense_Mutation	SNP	ENST00000240123.7	37	CCDS6031.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.86|11.86	1.763286|1.763286	0.31228|0.31228	.|.	.|.	ENSG00000120896|ENSG00000120896	ENST00000240123;ENST00000523900;ENST00000428103;ENST00000518912;ENST00000523965;ENST00000523348|ENST00000521554	T;T;T;T;T;T|.	0.30981|.	1.51;1.51;1.51;1.62;1.51;1.51|.	5.57|5.57	5.57|5.57	0.84162|0.84162	Src homology-3 domain (4);|.	0.133145|.	0.34460|.	N|.	0.003955|.	T|T	0.42154|0.42154	0.1190|0.1190	N|N	0.16037|0.16037	0.36|0.36	0.49582|0.49582	D|D	0.999804|0.999804	P|.	0.38250|.	0.624|.	P|.	0.55161|.	0.77|.	T|T	0.34650|0.34650	-0.9820|-0.9820	10|5	0.25751|.	T|.	0.34|.	-20.2159|-20.2159	13.266|13.266	0.60133|0.60133	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	475|.	O60504|.	VINEX_HUMAN|.	L|P	475;133;133;133;133;86|146	ENSP00000240123:F475L;ENSP00000431128:F133L;ENSP00000408476:F133L;ENSP00000429887:F133L;ENSP00000429764:F133L;ENSP00000428678:F86L|.	ENSP00000240123:F475L|.	F|L	+|+	1|2	0|0	SORBS3|SORBS3	22482723|22482723	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.814000|5.814000	0.69208|0.69208	2.117000|2.117000	0.64856|0.64856	0.460000|0.460000	0.39030|0.39030	TTC|CTT		0.562	SORBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254647.3	NM_005775	
