#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_IGV	i_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	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_dbSNPPopFreq	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_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
ESPNP	284729	broad.mit.edu	37	1	17030903	17030905	+	RNA	DEL	GAG	GAG	-	rs67156338|rs376609585	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:17030903_17030905delGAG	ENST00000492551.1	-	0	696					NR_026567.1				espin pseudogene																		AGAGATCGACGAGGAGGGGGCCT	0.64														1867	0.372804	0.3245	0.3343	5008	,	,		43669	0.4474		0.3936	False		,,,				2504	0.3671				.													.	.			0			.																																											0	.			ATCGACGAGGAGG	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17030906_17030908delGAG			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	7	0.43	3	.	0		0		RNA	DEL	ENST00000492551.1	37																																																																																						0.640	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000326311.1			
WASF2	10163	broad.mit.edu	37	1	27736343	27736343	+	Silent	SNP	G	G	A	rs200541363		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:27736343G>A	ENST00000430629.2	-	8	1397	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	394	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		gaggaggagggggaggaggag	0.637																																					p.P394P													.	WASF2	41		0			c.C1182T												53.0	55.0	54.0					1																	27736343		2203	4300	6503	SO:0001819	synonymous_variant	10163	exon8			AGGAGGGGGAGGA	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1182C>T	1.37:g.27736343G>A			Somatic	181	0.0055248619	1		WXS	Illumina HiSeq	Phase_I	230	0.02	4	NM_006990	48	0.00	0	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																					0.637	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000009516.1		NM_006990	
CACHD1	57685	broad.mit.edu	37	1	65147783	65147783	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:65147783G>T	ENST00000371073.2	+	26	3580	c.3580G>T	c.(3580-3582)Gat>Tat	p.D1194Y	CACHD1_ENST00000290039.5_Missense_Mutation_p.D1143Y|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1194					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AACAGAAAGTGATCATGGTAA	0.483																																					p.D1143Y													.	CACHD1	125		0			c.G3427T												108.0	95.0	99.0					1																	65147783		2203	4300	6503	SO:0001583	missense	57685	exon26			GAAAGTGATCATG	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3580G>T	1.37:g.65147783G>T	ENSP00000360113:p.Asp1194Tyr		Somatic	225	0	0		WXS	Illumina HiSeq	Phase_I	282	0.01	4	NM_020925	81	0.00	0	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	37		.	.	.	.	.	.	.	.	.	.	G	24.4	4.524875	0.85600	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.66995	-0.24;-0.17	5.91	5.91	0.95273	.	0.044424	0.85682	D	0.000000	T	0.76976	0.4063	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.77443	-0.2586	10	0.87932	D	0	-27.4144	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1194	Q5VU97	CAHD1_HUMAN	Y	1194;1143	ENSP00000360113:D1194Y;ENSP00000290039:D1143Y	ENSP00000290039:D1143Y	D	+	1	0	CACHD1	64920371	1.000000	0.71417	0.989000	0.46669	0.673000	0.39480	9.374000	0.97172	2.793000	0.96121	0.655000	0.94253	GAT			0.483	CACHD1-201	KNOWN	basic	protein_coding	protein_coding				NM_020925	
RP11-435B5.5	0	broad.mit.edu	37	1	143392853	143392853	+	lincRNA	DEL	T	T	-	rs201541314		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:143392853delT	ENST00000428624.1	+	0	2279				RP11-435B5.4_ENST00000423249.1_lincRNA																							TCTCCTCTCATTTTTTTTTTT	0.249																																					.													.	.			0			.																																											0	.			CTCTCATTTTTTT																													1.37:g.143392853delT			Somatic	10	0	0		WXS	Illumina HiSeq	Phase_I	8	0.38	3	.	0		0		RNA	DEL	ENST00000428624.1	37																																																																																						0.249	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA		OTTHUMT00000037971.1			
CACNA1E	777	mdanderson.org	37	1	181767679	181767679	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:181767679G>T	ENST00000367573.2	+	48	6651	c.6651G>T	c.(6649-6651)caG>caT	p.Q2217H	CACNA1E_ENST00000526775.1_Missense_Mutation_p.Q2155H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q2168H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q2106H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1781H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q2174H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q2198H	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2217					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCACCCCCAGCAGAGCCAAC	0.622																																					p.Q2217H													.	.			0			c.G6651T												51.0	59.0	57.0					1																	181767679		2144	4251	6395	SO:0001583	missense	777	exon48			CCCCCAGCAGAGC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6651G>T	1.37:g.181767679G>T	ENSP00000356545:p.Gln2217His		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	56	0.05	3	NM_001205293	1	0.00	0	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	G	9.689	1.151457	0.21371	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96427	-3.94;-3.94;-3.91;-3.94;-4.01;-3.91;-3.91	5.41	2.23	0.28157	.	1.820600	0.02616	N	0.102656	D	0.92116	0.7501	N	0.24115	0.695	0.28254	N	0.925136	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.82291	-0.0530	10	0.14252	T	0.57	.	9.0204	0.36195	0.0:0.2895:0.4468:0.2637	.	2155;2174	Q15878-2;Q15878-3	.;.	H	2174;2155;2168;2106;1781;2198;2217	ENSP00000356542:Q2174H;ENSP00000434814:Q2155H;ENSP00000350183:Q2168H;ENSP00000351101:Q2106H;ENSP00000356539:Q1781H;ENSP00000353222:Q2198H;ENSP00000356545:Q2217H	ENSP00000350183:Q2168H	Q	+	3	2	CACNA1E	180034302	0.335000	0.24748	0.529000	0.27951	0.630000	0.37929	0.624000	0.24462	0.596000	0.29794	0.558000	0.71614	CAG			0.622	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000090793.2		NM_000721	
ZNF496	84838	mdanderson.org	37	1	247464565	247464565	+	Silent	SNP	C	C	T	rs368972635		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr1:247464565C>T	ENST00000294753.4	-	9	1484	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.P376P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	340					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTAGAGATCGCGGGTTGCCGC	0.602																																					p.P340P													.	.			0			c.G1020A							C		0,4276		0,0,2138	60.0	68.0	65.0		1020	-8.2	0.0	1		65	1,8329		0,1,4164	no	coding-synonymous	ZNF496	NM_032752.1		0,1,6302	TT,TC,CC		0.012,0.0,0.0079		340/588	247464565	1,12605	2138	4165	6303	SO:0001819	synonymous_variant	84838	exon9			AGATCGCGGGTTG	BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1020G>A	1.37:g.247464565C>T			Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_032752	96	0.00	0	Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																					0.602	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000098655.2		NM_032752	
RTKN2	219790	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	63957724	63957724	+	Silent	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:63957724C>T	ENST00000373789.3	-	12	1869	c.1773G>A	c.(1771-1773)agG>agA	p.R591R	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	591					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGGATTTCTGCCTTGGAGCTG	0.413																																					p.R591R													.	.			0			c.G1773A												67.0	65.0	66.0					10																	63957724		2203	4300	6503	SO:0001819	synonymous_variant	219790	exon12			TTTCTGCCTTGGA	BC025765	CCDS7263.1, CCDS73140.1	10q21.3	2013-01-10	2007-12-14	2007-12-14	ENSG00000182010	ENSG00000182010		"""Pleckstrin homology (PH) domain containing"""	19364	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family K member 1"""	PLEKHK1		15504364	Standard	NM_001282941		Approved	Em:AC024597.2, bA531F24.1, FLJ39352	uc001jlw.3	Q8IZC4	OTTHUMG00000018299	ENST00000373789.3:c.1773G>A	10.37:g.63957724C>T			Somatic	154	0	0		WXS	Illumina HiSeq	.	165	0.41	67	NM_145307	5	0.60	3	Q3ZCR1|Q68DZ6|Q8N8K1|Q8TAV2	Silent	SNP	ENST00000373789.3	37	CCDS7263.1																																																																																					0.413	RTKN2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000091618.1		NM_145307	
MYPN	84665	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	10	69881408	69881408	+	Silent	SNP	A	A	G			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:69881408A>G	ENST00000358913.5	+	2	701	c.213A>G	c.(211-213)gaA>gaG	p.E71E	MYPN_ENST00000373675.3_Silent_p.E71E|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Silent_p.E71E	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	71	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCCAAGAAGAATTAGACGAAA	0.498																																					p.E71E													MYPN,NS,carcinoma,+2,1	MYPN	2	1	0			c.A213G												53.0	53.0	53.0					10																	69881408		2203	4300	6503	SO:0001819	synonymous_variant	84665	exon2			AGAAGAATTAGAC	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.213A>G	10.37:g.69881408A>G			Somatic	179	0	0		WXS	Illumina HiSeq	.	149	0.05	8	NM_032578	0		0	Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	CCDS7275.1																																																																																					0.498	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000048307.1		NM_032578	
LRRC20	55222	mdanderson.org	37	10	72061201	72061201	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:72061201G>T	ENST00000355790.4	-	5	941	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	LRRC20_ENST00000358141.2_Missense_Mutation_p.P105Q|LRRC20_ENST00000395011.1_Missense_Mutation_p.P105Q|LRRC20_ENST00000373224.1_Missense_Mutation_p.P155Q|LRRC20_ENST00000395010.1_Missense_Mutation_p.P99Q	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	155										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						GGCGTTGAGTGGGTTGAAGCG	0.612																																					p.P155Q													.	.			0			c.C464A												112.0	107.0	109.0					10																	72061201		2203	4300	6503	SO:0001583	missense	55222	exon5			TTGAGTGGGTTGA	BC024001	CCDS7300.1, CCDS7301.1, CCDS7302.1, CCDS73145.1	10q22.2	2004-04-15			ENSG00000172731	ENSG00000172731			23421	protein-coding gene	gene with protein product							Standard	NM_207119		Approved	FLJ10751, FLJ10844	uc031pvr.1	Q8TCA0	OTTHUMG00000018407	ENST00000355790.4:c.464C>A	10.37:g.72061201G>T	ENSP00000348043:p.Pro155Gln		Somatic	66	0	0		WXS	Illumina HiSeq	Phase_I	61	0.05	3	NM_207119	5	0.00	0	Q5T6D4|Q5T6D6|Q9NVA6|Q9NVG3	Missense_Mutation	SNP	ENST00000355790.4	37	CCDS7302.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432310	0.83776	.	.	ENSG00000172731	ENST00000373224;ENST00000355790;ENST00000395011;ENST00000395010;ENST00000358141;ENST00000357631;ENST00000446961	T;T;T;T;T;T;T	0.56611	0.45;0.45;1.6;0.76;1.6;0.76;0.45	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.58821	0.2149	N	0.21373	0.66	0.44745	D	0.99774	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.56378	-0.7989	10	0.33940	T	0.23	-35.2018	15.0009	0.71469	0.0:0.0:1.0:0.0	.	105;99;155	Q8TCA0-2;Q8TCA0-3;Q8TCA0	.;.;LRC20_HUMAN	Q	155;155;105;99;105;99;155	ENSP00000362321:P155Q;ENSP00000348043:P155Q;ENSP00000378458:P105Q;ENSP00000378457:P99Q;ENSP00000350860:P105Q;ENSP00000350255:P99Q;ENSP00000413745:P155Q	ENSP00000348043:P155Q	P	-	2	0	LRRC20	71731207	1.000000	0.71417	0.968000	0.41197	0.934000	0.57294	5.008000	0.63991	2.620000	0.88729	0.655000	0.94253	CCA			0.612	LRRC20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048510.1		NM_018239	
ZNF503	84858	mdanderson.org	37	10	77159117	77159117	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:77159117G>T	ENST00000372524.4	-	2	1817	c.1331C>A	c.(1330-1332)gCg>gAg	p.A444E	ZNF503_ENST00000535216.1_Missense_Mutation_p.A444E|ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	444	Ala-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|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)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGCGGCCGCCGCCCCTGCCAG	0.687																																					p.A444E													.	.			0			c.C1331A												7.0	9.0	9.0					10																	77159117		2079	4103	6182	SO:0001583	missense	84858	exon2			GCCGCCGCCCCTG	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.1331C>A	10.37:g.77159117G>T	ENSP00000361602:p.Ala444Glu		Somatic	26	0	0		WXS	Illumina HiSeq	Phase_I	14	0.14	2	NM_032772	6	0.00	0	Q8NAC5|Q96E25|Q96IJ0	Missense_Mutation	SNP	ENST00000372524.4	37	CCDS7350.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095588	0.76870	.	.	ENSG00000165655	ENST00000372524;ENST00000535216;ENST00000372516	T;T	0.46451	0.87;0.87	4.12	4.12	0.48240	.	0.000000	0.45361	D	0.000365	T	0.56673	0.2001	L	0.46157	1.445	0.58432	D	0.999996	D	0.76494	0.999	D	0.79108	0.992	T	0.58825	-0.7568	10	0.54805	T	0.06	-14.681	15.0887	0.72177	0.0:0.0:1.0:0.0	.	444	Q96F45	ZN503_HUMAN	E	444;444;407	ENSP00000361602:A444E;ENSP00000438988:A444E	ENSP00000361594:A407E	A	-	2	0	ZNF503	76829123	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.670000	0.68088	2.285000	0.76669	0.542000	0.68232	GCG			0.687	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048826.1		NM_032772	
CNNM1	26507	mdanderson.org	37	10	101089397	101089397	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:101089397G>T	ENST00000356713.4	+	1	542	c.253G>T	c.(253-255)Gca>Tca	p.A85S	CNNM1_ENST00000446890.1_Intron|CNNM1_ENST00000370534.4_5'Flank|CNNM1_ENST00000370528.3_Intron	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	85					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		GGCCACCGCCGCACCGGTGCC	0.731																																					p.A85S													.	.			0			c.G253T												10.0	11.0	10.0					10																	101089397		1427	3310	4737	SO:0001583	missense	26507	exon1			ACCGCCGCACCGG	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.253G>T	10.37:g.101089397G>T	ENSP00000349147:p.Ala85Ser		Somatic	14	0	0		WXS	Illumina HiSeq	Phase_I	13	0.23	3	NM_020348	0		0	Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	g	1.183	-0.637481	0.03557	.	.	ENSG00000119946	ENST00000356713	D	0.81996	-1.56	3.7	3.7	0.42460	.	.	.	.	.	T	0.64238	0.2580	N	0.08118	0	0.80722	D	1	B;B	0.24426	0.063;0.103	B;B	0.29716	0.106;0.049	T	0.56974	-0.7890	9	0.10636	T	0.68	.	8.4237	0.32716	0.1113:0.0:0.8887:0.0	.	85;85	Q9NRU3-2;Q9NRU3	.;CNNM1_HUMAN	S	85	ENSP00000349147:A85S	ENSP00000349147:A85S	A	+	1	0	CNNM1	101079387	0.056000	0.20664	0.066000	0.19879	0.013000	0.08279	0.000000	0.12993	1.923000	0.55706	0.450000	0.29827	GCA			0.731	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049792.2		NM_020348	
KNDC1	85442	mdanderson.org	37	10	135012338	135012338	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr10:135012338G>T	ENST00000304613.3	+	14	2347	c.2326G>T	c.(2326-2328)Gca>Tca	p.A776S	KNDC1_ENST00000368572.2_Missense_Mutation_p.A776S|KNDC1_ENST00000368571.2_Missense_Mutation_p.A711S			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	776	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCTCATCGGCAGCTCCCGG	0.716																																					p.A776S													.	.			0			c.G2326T												5.0	7.0	7.0					10																	135012338		2006	4048	6054	SO:0001583	missense	85442	exon14			TCATCGGCAGCTC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2326G>T	10.37:g.135012338G>T	ENSP00000304437:p.Ala776Ser		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	12	0.17	2	NM_152643	4	0.00	0	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	2.591	-0.295114	0.05532	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18016	2.74;2.74;2.24	3.97	2.02	0.26589	.	2.008130	0.04408	U	0.365511	T	0.15046	0.0363	L	0.38175	1.15	0.09310	N	1	B;B;B	0.27732	0.187;0.187;0.118	B;B;B	0.25140	0.058;0.039;0.017	T	0.29912	-0.9996	10	0.48119	T	0.1	-0.1711	5.6194	0.17450	0.1171:0.2015:0.6814:0.0	.	776;711;776	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	S	776;776;711	ENSP00000304437:A776S;ENSP00000357561:A776S;ENSP00000357560:A711S	ENSP00000304437:A776S	A	+	1	0	KNDC1	134862328	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.033000	0.13754	0.243000	0.21327	0.306000	0.20318	GCA			0.716	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000277044.3		NM_152643	
MUC2	4583	mdanderson.org	37	11	1092960	1092960	+	Silent	SNP	C	C	A			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr11:1092960C>A	ENST00000441003.2	+	30	4806	c.4779C>A	c.(4777-4779)acC>acA	p.T1593T	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Intron|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ctacggtgaccccaaccccaa	0.637																																					p.T1593T													.	.			0			c.C4779A																																									SO:0001819	synonymous_variant	4583	exon30			GGTGACCCCAACC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4779C>A	11.37:g.1092960C>A			Somatic	26	0.0384615385	1		WXS	Illumina HiSeq	Phase_I	21	0.19	4	NM_002457	0		0	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																						0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
DCP1B	196513	broad.mit.edu;mdanderson.org	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0				p.Q252H													DCP1B,bladder,carcinoma,0,13	DCP1B	63	13	8	Substitution - Missense(8)	endometrium(5)|lung(2)|large_intestine(1)	c.G756C												35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513	exon7			CTGCTGCTGGTGG	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His		Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	68	0.06	4	NM_152640	113	0.03	3	B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG			0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000398244.1		NM_152640	
TUBA1A	7846	broad.mit.edu	37	12	49580272	49580274	+	Intron	DEL	GGA	GGA	-			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr12:49580272_49580274delGGA	ENST00000295766.5	-	3	706				TUBA1A_ENST00000546918.1_In_Frame_Del_p.S116del|TUBA1A_ENST00000301071.7_Intron|TUBA1A_ENST00000550767.1_Intron	NM_001270399.1	NP_001257328.1	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a						'de novo' posttranslational protein folding (GO:0051084)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasmic microtubule (GO:0005881)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			stomach(1)|upper_aerodigestive_tract(1)	2					Albendazole(DB00518)|Mebendazole(DB00643)|Vinblastine(DB00570)	ggagcaggggggaggaggaggag	0.621																																					.	Pancreas(111;782 2307 24613 44561)|NSCLC(165;1667 2752 9496 39006)|Ovarian(19;24 776 10875 37451)												.	TUBA1A	32		0			.																																									SO:0001627	intron_variant	7846	.			CAGGGGGGAGGAG	AF141347	CCDS8781.1, CCDS58226.1, CCDS58227.1	12q13.12	2007-02-07						"""Tubulins"""	20766	protein-coding gene	gene with protein product	"""tubulin, alpha, brain-specific"""	602529				11504633, 3839072	Standard	NM_006009		Approved	TUBA3, B-ALPHA-1, FLJ25113	uc010smg.1	Q71U36	OTTHUMG00000169511	ENST00000295766.5:c.227-31TCC>-	12.37:g.49580281_49580283delGGA			Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	160	0.05	8	.	10	0.00	0	A8K0B8|G3V1U9|P04687|P05209	In_Frame_Del	DEL	ENST00000295766.5	37	CCDS58227.1																																																																																					0.621	TUBA1A-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000404547.2		NM_006009	
TENC1	23371	mdanderson.org	37	12	53442956	53442956	+	5'Flank	SNP	G	G	T	rs12369033	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr12:53442956G>T	ENST00000314250.6	+	0	0				TENC1_ENST00000546602.1_5'Flank|TENC1_ENST00000552570.1_5'Flank|RP11-983P16.4_ENST00000552905.1_RNA|TENC1_ENST00000451358.1_5'Flank|TENC1_ENST00000314276.3_Missense_Mutation_p.R10M|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Intron|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000546566.1_RNA|TENC1_ENST00000549700.1_5'Flank	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						TGTGTTGGGAGGGGGGACCTC	0.637																																					p.R10M													.	.			0			c.G29T												53.0	58.0	56.0					12																	53442956		2203	4300	6503	SO:0001631	upstream_gene_variant	23371	exon1			TTGGGAGGGGGGA	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730		12.37:g.53442956G>T	Exception_encountered		Somatic	49	0	0		WXS	Illumina HiSeq	Phase_I	109	0.03	3	NM_015319	0		0	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	G	9.883	1.202071	0.22121	.	.	ENSG00000111077	ENST00000314276	D	0.94537	-3.45	3.64	2.75	0.32379	.	1.467820	0.05017	N	0.471991	D	0.93054	0.7789	.	.	.	0.80722	D	1	P	0.41848	0.763	B	0.43360	0.417	D	0.87069	0.2158	9	0.62326	D	0.03	.	6.9137	0.24347	0.125:0.0:0.875:0.0	.	10	Q63HR2-4	.	M	10	ENSP00000319756:R10M	ENSP00000319756:R10M	R	+	2	0	TENC1	51729223	0.999000	0.42202	0.996000	0.52242	0.056000	0.15407	1.397000	0.34543	1.118000	0.41863	0.561000	0.74099	AGG			0.637	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000405779.1		NM_170754	
KBTBD7	84078	mdanderson.org	37	13	41767097	41767097	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr13:41767097G>T	ENST00000379483.3	-	1	1605	c.1297C>A	c.(1297-1299)Ctc>Atc	p.L433I		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	433										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TAGCCATTGAGATATGCCACA	0.483																																					p.L433I													.	.			0			c.C1297A												129.0	117.0	121.0					13																	41767097		2203	4300	6503	SO:0001583	missense	84078	exon1			CATTGAGATATGC	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.1297C>A	13.37:g.41767097G>T	ENSP00000368797:p.Leu433Ile		Somatic	153	0.0065359477	1		WXS	Illumina HiSeq	Phase_I	140	0.04	6	NM_032138	19	0.00	0	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144132	0.37825	.	.	ENSG00000120696	ENST00000379483;ENST00000501885	T	0.78707	-1.2	5.05	5.05	0.67936	Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000002	T	0.81607	0.4858	M	0.73753	2.245	0.51233	D	0.99991	B	0.29162	0.235	B	0.39068	0.289	T	0.81716	-0.0806	10	0.52906	T	0.07	.	15.9128	0.79485	0.0:0.0:1.0:0.0	.	433	Q8WVZ9	KBTB7_HUMAN	I	433;335	ENSP00000368797:L433I	ENSP00000368797:L433I	L	-	1	0	KBTBD7	40665097	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	6.728000	0.74769	2.328000	0.79073	0.557000	0.71058	CTC			0.483	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044660.1		NM_032138	
CRAMP1L	57585	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	1703072	1703072	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr16:1703072C>A	ENST00000397412.3	+	8	1051	c.952C>A	c.(952-954)Cct>Act	p.P318T	CRAMP1L_ENST00000262317.4_5'Flank|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.P318T|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.P315T			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	318						nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGTGCGCCTGCCTCTGAAAGT	0.557																																					p.P318T													.	.			0			c.C952A												28.0	33.0	31.0					16																	1703072		1945	4132	6077	SO:0001583	missense	57585	exon7			CGCCTGCCTCTGA	AB037847	CCDS10440.2	16p13.3	2008-07-30	2001-11-28		ENSG00000007545	ENSG00000007545			14122	protein-coding gene	gene with protein product			"""Crm (Cramped Drosophila)-like"""				Standard	NM_020825		Approved	KIAA1426	uc010uvh.2	Q96RY5	OTTHUMG00000074087	ENST00000397412.3:c.952C>A	16.37:g.1703072C>A	ENSP00000380559:p.Pro318Thr		Somatic	83	0	0		WXS	Illumina HiSeq	.	100	0.14	14	NM_020825	6	0.00	0	A8MZL1|B1AJY1|Q8NDN1|Q9P2C1	Missense_Mutation	SNP	ENST00000397412.3	37	CCDS10440.2	.	.	.	.	.	.	.	.	.	.	c	17.96	3.516555	0.64634	.	.	ENSG00000007545	ENST00000397412;ENST00000293925;ENST00000436138	.	.	.	5.14	5.14	0.70334	.	0.064020	0.64402	D	0.000006	T	0.69655	0.3135	M	0.67397	2.05	0.80722	D	1	B	0.27068	0.167	B	0.31337	0.128	T	0.71062	-0.4701	9	0.87932	D	0	-30.2257	18.9724	0.92721	0.0:1.0:0.0:0.0	.	318	Q96RY5	CRML_HUMAN	T	318;318;315	.	ENSP00000293925:P318T	P	+	1	0	CRAMP1L	1643073	1.000000	0.71417	0.996000	0.52242	0.654000	0.38779	7.588000	0.82629	2.565000	0.86533	0.651000	0.88453	CCT			0.557	CRAMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000157297.4			
FAM86A	196483	ucsc.edu	37	16	5140488	5140488	+	Missense_Mutation	SNP	C	C	T	rs200021489	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr16:5140488C>T	ENST00000427587.4	-	5	489	c.421G>A	c.(421-423)Gcc>Acc	p.A141T	FAM86A_ENST00000458008.4_Missense_Mutation_p.A107T|FAM86A_ENST00000587133.1_Missense_Mutation_p.A80T	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	141						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						TAGAGGGCGGCGTCCCATGTG	0.642																																					p.A141T													.	FAM86A	32		0			c.G421A												90.0	88.0	89.0					16																	5140488		2197	4300	6497	SO:0001583	missense	196483	exon5			GGGCGGCGTCCCA	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.421G>A	16.37:g.5140488C>T	ENSP00000398502:p.Ala141Thr		Somatic	194	0.0051546392	1		RNA-Seq	Illumina HiSeq		195	0.02	4	NM_201400	27	0.33	9	D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	c	20.2	3.953061	0.73902	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.14266	2.52;2.52	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.48554	0.1506	H	0.97077	3.935	0.80722	D	1	D;D	0.67145	0.996;0.987	P;P	0.60886	0.88;0.78	T	0.66101	-0.6007	10	0.72032	D	0.01	.	15.221	0.73310	0.0:1.0:0.0:0.0	.	107;141	Q96G04-2;Q96G04	.;FA86A_HUMAN	T	107;141	ENSP00000389710:A107T;ENSP00000398502:A141T	ENSP00000398502:A141T	A	-	1	0	FAM86A	5080489	1.000000	0.71417	0.506000	0.27664	0.137000	0.21094	6.686000	0.74548	2.620000	0.88729	0.450000	0.29827	GCC			0.642	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251713.1	rescued with RNA-seq	NM_201400	
ITGAL	3683	mdanderson.org	37	16	30510736	30510736	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr16:30510736G>T	ENST00000356798.6	+	17	2251	c.2071G>T	c.(2071-2073)Ggg>Tgg	p.G691W	ITGAL_ENST00000358164.5_Missense_Mutation_p.G608W|ITGAL_ENST00000433423.2_Missense_Mutation_p.G87W|RP11-297C4.1_ENST00000563751.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	691					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	GTTCCCAGGAGGGAGACATGA	0.562																																					p.G691W	NSCLC(110;1462 1641 3311 33990 49495)												.	.			0			c.G2071T												133.0	125.0	128.0					16																	30510736		2197	4300	6497	SO:0001583	missense	3683	exon17			CCAGGAGGGAGAC		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2071G>T	16.37:g.30510736G>T	ENSP00000349252:p.Gly691Trp		Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_002209	11	0.00	0	O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467078	0.26335	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.48836	0.8;0.8;1.63	5.79	5.79	0.91817	Integrin alpha-2 (1);	0.000000	0.56097	D	0.000023	T	0.67487	0.2898	M	0.76574	2.34	0.50632	D	0.999884	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.69815	-0.5043	10	0.72032	D	0.01	.	12.5499	0.56222	0.0:0.0:0.8339:0.1661	.	87;608;691	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	W	691;608;87	ENSP00000349252:G691W;ENSP00000350886:G608W;ENSP00000409377:G87W	ENSP00000349252:G691W	G	+	1	0	ITGAL	30418237	0.970000	0.33590	0.189000	0.23252	0.021000	0.10359	1.782000	0.38654	2.753000	0.94483	0.650000	0.86243	GGG			0.562	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000434508.2			
HEATR3	55027	mdanderson.org	37	16	50112705	50112705	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr16:50112705A>T	ENST00000299192.7	+	7	1008	c.817A>T	c.(817-819)Ata>Tta	p.I273L	HEATR3_ENST00000285767.4_Missense_Mutation_p.I187L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	273										cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGCAGAAATCATAAATGCCTT	0.353																																					p.I273L													.	.			0			c.A817T												72.0	69.0	70.0					16																	50112705		2198	4300	6498	SO:0001583	missense	55027	exon7			GAAATCATAAATG	BC018730	CCDS10739.1	16q12.1	2008-02-05			ENSG00000155393	ENSG00000155393			26087	protein-coding gene	gene with protein product		614951				12477932	Standard	XM_005256013		Approved	FLJ20718	uc002efw.3	Q7Z4Q2	OTTHUMG00000133174	ENST00000299192.7:c.817A>T	16.37:g.50112705A>T	ENSP00000299192:p.Ile273Leu		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	57	0.05	3	NM_182922	41	0.02	1	A8K1N4|Q8N525|Q8WV56|Q96CC9|Q9NWN7	Missense_Mutation	SNP	ENST00000299192.7	37	CCDS10739.1	.	.	.	.	.	.	.	.	.	.	A	10.81	1.455322	0.26161	.	.	ENSG00000155393	ENST00000285767;ENST00000299192	T;T	0.29917	1.55;1.55	5.74	5.74	0.90152	Armadillo-like helical (1);Armadillo-type fold (1);	0.142955	0.64402	D	0.000008	T	0.18551	0.0445	N	0.21194	0.64	0.41703	D	0.989415	B;P	0.38788	0.008;0.647	B;B	0.35470	0.009;0.203	T	0.08700	-1.0709	10	0.16896	T	0.51	.	10.9732	0.47450	0.9216:0.0:0.0784:0.0	.	187;273	B7WNW7;Q7Z4Q2	.;HEAT3_HUMAN	L	187;273	ENSP00000285767:I187L;ENSP00000299192:I273L	ENSP00000285767:I187L	I	+	1	0	HEATR3	48670206	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.204000	0.51082	2.315000	0.78130	0.519000	0.50382	ATA			0.353	HEATR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256880.2		NM_182922	
KRTAP1-1	81851	broad.mit.edu	37	17	39197304	39197304	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:39197304T>C	ENST00000306271.4	-	1	409	c.346A>G	c.(346-348)Atc>Gtc	p.I116V		NM_030967.2	NP_112229.1	Q07627	KRA11_HUMAN	keratin associated protein 1-1	116						keratin filament (GO:0045095)		p.I116V(1)		NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			CACCACCTGATACGGGTGCTC	0.662																																					p.I116V													KRTAP1-1,NS,malignant_melanoma,0,1	KRTAP1-1	23	1	1	Substitution - Missense(1)	NS(1)	c.A346G												22.0	27.0	25.0					17																	39197304		2019	4148	6167	SO:0001583	missense	81851	exon1			ACCTGATACGGGT	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.346A>G	17.37:g.39197304T>C	ENSP00000305975:p.Ile116Val		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	108	0.03	3	NM_030967	0		0	A6NC32|Q96S60|Q96S67	Missense_Mutation	SNP	ENST00000306271.4	37	CCDS42324.1	.	.	.	.	.	.	.	.	.	.	T	8.173	0.792133	0.16258	.	.	ENSG00000188581	ENST00000306271;ENST00000543328	T	0.29655	1.56	4.28	-1.23	0.09465	.	.	.	.	.	T	0.12135	0.0295	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34079	-0.9843	9	0.20046	T	0.44	.	9.4726	0.38851	0.0:0.573:0.0:0.427	.	116	Q07627	KRA11_HUMAN	V	116;106	ENSP00000305975:I116V	ENSP00000305975:I116V	I	-	1	0	KRTAP1-1	36450830	0.132000	0.22450	0.024000	0.17045	0.516000	0.34256	0.017000	0.13399	-0.199000	0.10317	0.529000	0.55759	ATC			0.662	KRTAP1-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257696.1		NM_030967	
KRTAP9-9	81870	hgsc.bcm.edu	37	17	39411694	39411694	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:39411694G>C	ENST00000394008.1	+	1	59	c.57G>C	c.(55-57)tgG>tgC	p.W19C		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	24	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCACCTGCTGGAAGCCCACCA	0.622																																					p.W19C													KRTAP9-9,NS,carcinoma,+2,1	KRTAP9-9	2	1	0			c.G57C																																									SO:0001583	missense	81870	exon1			CTGCTGGAAGCCC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.57G>C	17.37:g.39411694G>C	ENSP00000377576:p.Trp19Cys		Somatic	68	0.0147058824	1		WXS	Illumina HiSeq	.	110	0.07	8	NM_030975	0		0	B5MDD6|Q9BYQ1	Missense_Mutation	SNP	ENST00000394008.1	37	CCDS54127.1	.	.	.	.	.	.	.	.	.	.	.	0.100	-1.153249	0.01700	.	.	ENSG00000198083	ENST00000394008	T	0.00711	5.8	3.04	-5.55	0.02536	.	.	.	.	.	T	0.00210	0.0006	N	0.00152	-1.975	0.20196	N	0.999925	B	0.02656	0.0	B	0.04013	0.001	T	0.42865	-0.9426	9	0.02654	T	1	.	6.8781	0.24158	0.0:0.2867:0.1571:0.5562	.	24	Q9BYP9	KRA99_HUMAN	C	19	ENSP00000377576:W19C	ENSP00000377576:W19C	W	+	3	0	KRTAP9-9	36665220	0.000000	0.05858	0.005000	0.12908	0.435000	0.31806	-0.843000	0.04350	-1.036000	0.03287	0.456000	0.33151	TGG			0.622	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257710.1		NM_030975	
EFCAB13	124989	broad.mit.edu	37	17	45455146	45455146	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:45455146G>T	ENST00000331493.2	+	13	1798	c.1387G>T	c.(1387-1389)Gct>Tct	p.A463S	EFCAB13_ENST00000517484.1_Missense_Mutation_p.A367S	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	463						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										CTTCTGTGAAGCTATCAGTAA	0.294																																					p.A463S													.	.			0			c.G1387T												47.0	51.0	50.0					17																	45455146		2203	4295	6498	SO:0001583	missense	124989	exon13			TGTGAAGCTATCA	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1387G>T	17.37:g.45455146G>T	ENSP00000332111:p.Ala463Ser		Somatic	348	0.0028735632	1		WXS	Illumina HiSeq	Phase_I	535	0.01	7	NM_152347	3	0.00	0	G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	8.254	0.809669	0.16537	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176	T;T	0.66460	0.19;-0.21	3.8	-2.46	0.06461	.	1.499050	0.03911	N	0.281932	T	0.60261	0.2255	L	0.43152	1.355	0.09310	N	1	P;P;P	0.50819	0.793;0.939;0.939	B;P;P	0.50192	0.303;0.634;0.634	T	0.51601	-0.8685	10	0.36615	T	0.2	0.3747	0.4927	0.00566	0.3416:0.1775:0.3001:0.1807	.	415;463;367	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	S	463;367;415	ENSP00000332111:A463S;ENSP00000430048:A367S	ENSP00000332111:A463S	A	+	1	0	C17orf57	42810145	0.001000	0.12720	0.004000	0.12327	0.019000	0.09904	0.100000	0.15231	-0.187000	0.10516	0.460000	0.39030	GCT			0.294	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000380147.4		NM_152347	
MRC2	9902	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	60743604	60743604	+	Missense_Mutation	SNP	C	C	T	rs541473425		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr17:60743604C>T	ENST00000303375.5	+	3	1072	c.670C>T	c.(670-672)Cgc>Tgc	p.R224C		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	224	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CAAAGACGAGCGCTGGGGCTT	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		17547	0.0		0.0	False		,,,				2504	0.001				p.R224C													.	.			0			c.C670T												30.0	26.0	27.0					17																	60743604		2203	4298	6501	SO:0001583	missense	9902	exon3			GACGAGCGCTGGG	AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.670C>T	17.37:g.60743604C>T	ENSP00000307513:p.Arg224Cys		Somatic	53	0	0		WXS	Illumina HiSeq	.	58	0.17	10	NM_006039	49	0.33	16	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	ENST00000303375.5	37	CCDS11634.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.603655	0.87157	.	.	ENSG00000011028	ENST00000303375	T	0.51325	0.71	4.55	4.55	0.56014	Fibronectin, type II, collagen-binding (5);Kringle-like fold (1);	0.334104	0.29009	N	0.013434	T	0.64182	0.2575	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.67639	-0.5619	10	0.87932	D	0	-28.9859	12.594	0.56459	0.1657:0.8343:0.0:0.0	.	224	Q9UBG0	MRC2_HUMAN	C	224	ENSP00000307513:R224C	ENSP00000307513:R224C	R	+	1	0	MRC2	58097336	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.685000	0.54678	2.368000	0.80403	0.561000	0.74099	CGC			0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000445152.1			
KLHL14	57565	mdanderson.org	37	18	30350531	30350531	+	Silent	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr18:30350531G>T	ENST00000359358.4	-	2	462	c.24C>A	c.(22-24)acC>acA	p.T8T	AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Silent_p.T8T	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	8						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CGAAGGTGGAGGTCCTGTCCC	0.652																																					p.T8T													.	.			0			c.C24A												79.0	56.0	64.0					18																	30350531		2202	4300	6502	SO:0001819	synonymous_variant	57565	exon2			GGTGGAGGTCCTG	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.24C>A	18.37:g.30350531G>T			Somatic	18	0	0		WXS	Illumina HiSeq	Phase_I	15	0.13	2	NM_020805	0		0	A6NNW1|B4DHA0|Q8WU41	Silent	SNP	ENST00000359358.4	37	CCDS32813.1																																																																																					0.652	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000448376.1			
PRAM1	84106	mdanderson.org	37	19	8563401	8563401	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:8563401G>T	ENST00000423345.4	-	2	1811	c.1291C>A	c.(1291-1293)Cca>Aca	p.P431T	PRAM1_ENST00000255612.3_Missense_Mutation_p.P431T			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	479	Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTGAGGCCTGGCCTGGCCCCT	0.746																																					p.P431T													.	.			0			c.C1291A												12.0	15.0	14.0					19																	8563401		1897	4072	5969	SO:0001583	missense	84106	exon2			GGCCTGGCCTGGC	BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.1291C>A	19.37:g.8563401G>T	ENSP00000408342:p.Pro431Thr		Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_032152	3	0.00	0	Q8N6W7	Missense_Mutation	SNP	ENST00000423345.4	37	CCDS45954.2	.	.	.	.	.	.	.	.	.	.	G	10.12	1.264093	0.23136	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.13901	2.55;2.55	3.07	-0.559	0.11792	.	0.701602	0.11025	N	0.607924	T	0.09024	0.0223	L	0.38175	1.15	0.09310	N	1	B;B	0.24426	0.103;0.103	B;B	0.28011	0.058;0.085	T	0.41698	-0.9494	10	0.20519	T	0.43	.	3.3055	0.06998	0.3838:0.0:0.4322:0.184	.	431;479	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	T	431	ENSP00000255612:P431T;ENSP00000408342:P431T	ENSP00000255612:P431T	P	-	1	0	PRAM1	8469401	0.001000	0.12720	0.267000	0.24556	0.718000	0.41266	0.832000	0.27490	0.074000	0.16767	0.313000	0.20887	CCA			0.746	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000397040.3		NM_032152	
PALM3	342979	mdanderson.org	37	19	14166230	14166230	+	Missense_Mutation	SNP	C	C	T	rs372500968		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:14166230C>T	ENST00000340790.4	-	5	361	c.362G>A	c.(361-363)cGt>cAt	p.R121H		NM_001145028.1	NP_001138500.1	A6NDB9	PALM3_HUMAN	paralemmin 3	121					negative regulation of cytokine-mediated signaling pathway (GO:0001960)|response to lipopolysaccharide (GO:0032496)|Toll signaling pathway (GO:0008063)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)			endometrium(1)|kidney(2)|pancreas(1)|skin(1)	5						GGAGAGAGGACGGTGACCCTG	0.627																																					p.R121H													.	.			0			c.G362A							C	HIS/ARG	0,1384		0,0,692	73.0	68.0	70.0		362	3.8	1.0	19		70	1,3181		0,1,1590	no	missense	PALM3	NM_001145028.1	29	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	probably-damaging	121/674	14166230	1,4565	692	1591	2283	SO:0001583	missense	342979	exon5			AGAGGACGGTGAC		CCDS46001.1	19p13.12	2010-04-15			ENSG00000187867	ENSG00000187867			33274	protein-coding gene	gene with protein product							Standard	NM_001145028		Approved		uc010xnk.1	A6NDB9		ENST00000340790.4:c.362G>A	19.37:g.14166230C>T	ENSP00000344996:p.Arg121His		Somatic	52	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_001145028	30	0.00	0		Missense_Mutation	SNP	ENST00000340790.4	37	CCDS46001.1	.	.	.	.	.	.	.	.	.	.	c	20.7	4.037884	0.75617	0.0	3.14E-4	ENSG00000187867	ENST00000340790	T	0.39056	1.1	4.95	3.84	0.44239	.	0.202114	0.32836	N	0.005584	T	0.54919	0.1888	L	0.50333	1.59	0.28445	N	0.91662	D	0.89917	1.0	D	0.85130	0.997	T	0.45804	-0.9236	10	0.56958	D	0.05	-10.0155	10.7406	0.46152	0.0:0.8067:0.1933:0.0	.	121	A6NDB9	PALM3_HUMAN	H	121	ENSP00000344996:R121H	ENSP00000344996:R121H	R	-	2	0	PALM3	14027230	0.965000	0.33210	1.000000	0.80357	0.887000	0.51463	2.206000	0.42779	2.467000	0.83353	0.484000	0.47621	CGT			0.627	PALM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458540.1		NM_001145028	
WDR87	83889	broad.mit.edu	37	19	38377225	38377225	+	Missense_Mutation	SNP	G	G	T	rs548162056|rs151219712	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:38377225G>T	ENST00000303868.5	-	6	7193	c.6969C>A	c.(6967-6969)gaC>gaA	p.D2323E	WDR87_ENST00000447313.2_Missense_Mutation_p.D2362E	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	2323	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CCTCTTCCTCGTCACTCAAAC	0.383																																					p.D2323E													.	WDR87	191		0			c.C6969A												232.0	194.0	206.0					19																	38377225		692	1591	2283	SO:0001583	missense	83889	exon6			TTCCTCGTCACTC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.6969C>A	19.37:g.38377225G>T	ENSP00000368025:p.Asp2323Glu		Somatic	444	0	0		WXS	Illumina HiSeq	Phase_I	448	0.01	5	NM_031951	7	0.00	0	Q9BWV9	Missense_Mutation	SNP	ENST00000303868.5	37	CCDS46063.1	.	.	.	.	.	.	.	.	.	.	G	7.033	0.561032	0.13498	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.04454	3.62;3.62	4.1	-5.33	0.02713	.	.	.	.	.	T	0.01523	0.0049	N	0.03608	-0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46062	-0.9218	9	0.02654	T	1	.	6.0811	0.19942	0.2198:0.16:0.5384:0.0818	.	2323;2362	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	E	2362;2323	ENSP00000405012:D2362E;ENSP00000368025:D2323E	ENSP00000368025:D2323E	D	-	3	2	WDR87	43069065	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.259000	0.08721	-0.835000	0.04234	-1.842000	0.00583	GAC			0.383	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000314628.2		XM_940478	
CLASRP	11129	mdanderson.org	37	19	45556058	45556058	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:45556058G>T	ENST00000221455.3	+	4	305	c.207G>T	c.(205-207)tgG>tgT	p.W69C	CLASRP_ENST00000391953.4_Intron|CLASRP_ENST00000544944.2_Missense_Mutation_p.W69C	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	69					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GGATGCCCTGGCAGGGGGACA	0.587																																					p.W69C													.	.			0			c.G207T												134.0	102.0	113.0					19																	45556058		2203	4300	6503	SO:0001583	missense	11129	exon4			GCCCTGGCAGGGG	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.207G>T	19.37:g.45556058G>T	ENSP00000221455:p.Trp69Cys		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	70	0.06	4	NM_007056	95	0.00	0	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	Missense_Mutation	SNP	ENST00000221455.3	37	CCDS12652.2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968265	0.74131	.	.	ENSG00000104859	ENST00000221455;ENST00000391952;ENST00000544944	T;T;T	0.49432	0.78;0.78;0.78	4.37	4.37	0.52481	Splicing factor, suppressor of white apricot (1);	0.000000	0.34156	U	0.004203	T	0.69504	0.3118	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74791	-0.3545	10	0.87932	D	0	-16.4257	14.8031	0.69929	0.0:0.0:1.0:0.0	.	69;69	F5H0Q6;Q8N2M8	.;CLASR_HUMAN	C	69	ENSP00000221455:W69C;ENSP00000375814:W69C;ENSP00000438702:W69C	ENSP00000221455:W69C	W	+	3	0	CLASRP	50247898	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.090000	0.94144	2.431000	0.82371	0.591000	0.81541	TGG			0.587	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316749.1		NM_007056	
UBE2M	9040	broad.mit.edu	37	19	59067587	59067587	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr19:59067587G>T	ENST00000253023.3	-	6	999	c.421C>A	c.(421-423)Ccc>Acc	p.P141T	CHMP2A_ENST00000601220.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	141					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGGTCCTCGGGGTTGGGCTCC	0.617																																					p.P141T													.	UBE2M	14		0			c.C421A												64.0	68.0	66.0					19																	59067587		2203	4300	6503	SO:0001583	missense	9040	exon6			CCTCGGGGTTGGG	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.421C>A	19.37:g.59067587G>T	ENSP00000253023:p.Pro141Thr		Somatic	153	0	0		WXS	Illumina HiSeq	Phase_I	187	0.03	5	NM_003969	580	0.00	0	O76069|Q8VC50	Missense_Mutation	SNP	ENST00000253023.3	37	CCDS12987.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861874	0.71949	.	.	ENSG00000130725	ENST00000253023	T	0.73575	-0.76	4.41	4.41	0.53225	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.64402	D	0.000006	T	0.80944	0.4721	M	0.89478	3.035	0.54753	D	0.999988	P	0.37500	0.597	B	0.42030	0.373	D	0.84652	0.0701	10	0.59425	D	0.04	-21.6429	14.9005	0.70675	0.0:0.0:1.0:0.0	.	141	P61081	UBC12_HUMAN	T	141	ENSP00000253023:P141T	ENSP00000253023:P141T	P	-	1	0	UBE2M	63759399	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	6.167000	0.71902	2.467000	0.83353	0.655000	0.94253	CCC			0.617	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000467097.1		NM_003969	
AC016995.3	0	broad.mit.edu	37	2	38710046	38710047	+	lincRNA	DNP	TA	TA	AT	rs61417537|rs574017590|rs57355803		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr2:38710046_38710047TA>AT	ENST00000417039.1	-	0	696																											aaataaataataaataaataaa	0.272																																					.													.	.			0			.																																											0	.			AAATAATAAATAA																												Exception_encountered	2.37:g.38710046_38710047delinsAT			Somatic	56	0.0178571429	1		WXS	Illumina HiSeq	Phase_I	58	0.10	6	.	0		0		RNA	DNP	ENST00000417039.1	37																																																																																						0.272	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000331173.1			
HIBCH	26275	ucsc.edu	37	2	191161637	191161637	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr2:191161637C>T	ENST00000359678.5	-	3	415	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	HIBCH_ENST00000392332.3_Missense_Mutation_p.E41K	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	41				E -> G (in Ref. 5; AAH67822). {ECO:0000305}.	branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCTTTTTTTTCCAATAGCACC	0.368																																					p.E41K													.	HIBCH	28		0			c.G121A												117.0	104.0	109.0					2																	191161637		2202	4300	6502	SO:0001583	missense	26275	exon3			TTTTTTCCAATAG	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.121G>A	2.37:g.191161637C>T	ENSP00000352706:p.Glu41Lys		Somatic	174	0.0057471264	1		RNA-Seq	Illumina HiSeq		173	0.01	1	NM_014362	40	0.13	5	D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	37	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.699727	0.48307	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.74632	-0.86;-0.86;0.7	5.29	5.29	0.74685	.	0.300919	0.41001	N	0.000975	T	0.67692	0.2920	L	0.52126	1.63	0.80722	D	1	B;B	0.14012	0.009;0.005	B;B	0.20577	0.03;0.013	T	0.64635	-0.6361	10	0.45353	T	0.12	-6.4799	10.0145	0.42006	0.0:0.9082:0.0:0.0918	.	41;41	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	K	41;41;95	ENSP00000376144:E41K;ENSP00000352706:E41K;ENSP00000387247:E95K	ENSP00000352706:E41K	E	-	1	0	HIBCH	190869882	1.000000	0.71417	0.960000	0.40013	0.631000	0.37964	3.764000	0.55264	2.503000	0.84419	0.650000	0.86243	GAA			0.368	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000255933.1			
ADNP	23394	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	20	49509508	49509508	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr20:49509508G>T	ENST00000396029.3	-	5	2310	c.1743C>A	c.(1741-1743)taC>taA	p.Y581*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.Y581*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.Y581*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.Y581*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	581					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TTTGGGCATGGTAAGCAACAG	0.463																																					p.Y581X													.	.			0			c.C1743A												159.0	158.0	158.0					20																	49509508		2203	4300	6503	SO:0001587	stop_gained	23394	exon5			GGCATGGTAAGCA	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1743C>A	20.37:g.49509508G>T	ENSP00000379346:p.Tyr581*		Somatic	108	0	0		WXS	Illumina HiSeq	.	171	0.32	54	NM_015339	154	0.35	54	E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	ENST00000396029.3	37	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	G	40	8.352699	0.98774	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	-1.34	0.09143	.	0.160313	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9234	11.6394	0.51224	0.4704:0.0:0.5296:0.0	.	.	.	.	X	581	.	ENSP00000342905:Y581X	Y	-	3	2	ADNP	48942915	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	0.660000	0.25009	-0.091000	0.12440	-0.133000	0.14855	TAC			0.463	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000079705.2		NM_181442	
ZNRF3	84133	mdanderson.org	37	22	29446468	29446468	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr22:29446468C>T	ENST00000544604.2	+	8	2474	c.2299C>T	c.(2299-2301)Ccc>Tcc	p.P767S	ZNRF3_ENST00000406323.3_Missense_Mutation_p.P667S|ZNRF3_ENST00000332811.4_Missense_Mutation_p.P667S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P667S	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	767					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGACCATTTGCCCAGGACAGA	0.667																																					p.P767S													.	.			0			c.C2299T												15.0	16.0	16.0					22																	29446468		1895	4045	5940	SO:0001583	missense	84133	exon8			CATTTGCCCAGGA	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2299C>T	22.37:g.29446468C>T	ENSP00000443824:p.Pro767Ser		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_001206998	39	0.00	0	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742079	0.49151	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.33	2.02	0.26589	.	0.339870	0.34828	N	0.003656	T	0.81259	0.4785	L	0.50333	1.59	0.36602	D	0.874749	P	0.50443	0.935	P	0.50270	0.636	T	0.82486	-0.0433	10	0.52906	T	0.07	-17.7456	8.9676	0.35885	0.0:0.7323:0.1246:0.1432	.	767	Q9ULT6	ZNRF3_HUMAN	S	767;667;474;667;667	ENSP00000443824:P767S;ENSP00000328614:P667S;ENSP00000384456:P667S;ENSP00000384553:P667S	ENSP00000328614:P667S	P	+	1	0	ZNRF3	27776468	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	2.774000	0.47694	0.732000	0.32470	-0.150000	0.13652	CCC			0.667	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000320943.2		XM_290972	
ODF3B	440836	broad.mit.edu;mdanderson.org	37	22	50969176	50969176	+	Silent	SNP	G	G	T	rs371794773	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr22:50969176G>T	ENST00000428989.2	-	5	645	c.646C>A	c.(646-648)Cgg>Agg	p.R216R	ODF3B_ENST00000329363.4_Silent_p.R216R|TYMP_ENST00000395678.3_5'Flank|TYMP_ENST00000395680.1_5'Flank|TYMP_ENST00000252029.3_5'Flank|TYMP_ENST00000395681.1_5'Flank|ODF3B_ENST00000401779.1_Nonsense_Mutation_p.S192*|ODF3B_ENST00000405135.1_Nonsense_Mutation_p.S231*|ODF3B_ENST00000403326.1_Silent_p.R148R			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	216										lung(2)	2						CCTGGCTTCCGAGTGTTGTCT	0.662																																					p.R216R													.	ODF3B	6		0			c.C646A												16.0	19.0	18.0					22																	50969176		1926	4109	6035	SO:0001819	synonymous_variant	440836	exon6			GCTTCCGAGTGTT		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.646C>A	22.37:g.50969176G>T			Somatic	85	0	0		WXS	Illumina HiSeq	Phase_I	92	0.04	4	NM_001014440	39	0.00	0	A0PK18	Nonsense_Mutation	SNP	ENST00000428989.2	37	CCDS43039.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975081	0.34848	.	.	ENSG00000177989	ENST00000401779;ENST00000405135	.	.	.	5.05	-2.31	0.06765	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-0.0292	3.919	0.09236	0.1028:0.4395:0.3124:0.1454	.	.	.	.	X	192;231	.	ENSP00000384310:S192X	S	-	2	0	ODF3B	49316042	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.476000	0.06591	-0.066000	0.12998	0.491000	0.48974	TCG			0.662	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317626.2			
BRPF1	7862	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	3	9783003	9783003	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:9783003G>T	ENST00000457855.1	+	4	1745	c.1734G>T	c.(1732-1734)gaG>gaT	p.E578D	BRPF1_ENST00000383829.2_Missense_Mutation_p.E578D|BRPF1_ENST00000433861.2_Missense_Mutation_p.E578D|BRPF1_ENST00000302054.3_Missense_Mutation_p.E578D|BRPF1_ENST00000424362.1_Missense_Mutation_p.E578D			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	578	Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GAGATTCTGAGGATAAGAACT	0.532																																					p.E578D													.	.			0			c.G1734T												77.0	82.0	80.0					3																	9783003		2203	4300	6503	SO:0001583	missense	7862	exon5			TTCTGAGGATAAG	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1734G>T	3.37:g.9783003G>T	ENSP00000410210:p.Glu578Asp		Somatic	67	0	0		WXS	Illumina HiSeq	.	73	0.05	4	NM_001003694	29	0.00	0	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	9.868	1.198113	0.22037	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.17054	2.31;2.3;3.7;2.3;2.3	5.91	3.15	0.36227	.	0.148955	0.64402	N	0.000012	T	0.08179	0.0204	N	0.12663	0.25	0.47547	D	0.99945	B;B;B;B	0.09022	0.002;0.001;0.001;0.0	B;B;B;B	0.11329	0.006;0.004;0.004;0.002	T	0.24905	-1.0147	10	0.11794	T	0.64	.	8.7064	0.34356	0.1297:0.0:0.7457:0.1246	.	578;578;578;578	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	D	578	ENSP00000402485:E578D;ENSP00000398863:E578D;ENSP00000373340:E578D;ENSP00000306297:E578D;ENSP00000410210:E578D	ENSP00000306297:E578D	E	+	3	2	BRPF1	9758003	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.298000	0.43602	0.393000	0.25203	0.655000	0.94253	GAG			0.532	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000338485.1		NM_001003694	
FGD5	152273	broad.mit.edu	37	3	14941958	14941958	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:14941958A>G	ENST00000285046.5	+	8	3313	c.3203A>G	c.(3202-3204)cAg>cGg	p.Q1068R	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.Q827R	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1068	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GACAACACACAGGGTGAGTCC	0.567																																					p.Q1068R													.	FGD5	248		0			c.A3203G												31.0	33.0	33.0					3																	14941958		2167	4274	6441	SO:0001583	missense	152273	exon8			ACACACAGGGTGA	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.3203A>G	3.37:g.14941958A>G	ENSP00000285046:p.Gln1068Arg		Somatic	255	0	0		WXS	Illumina HiSeq	Phase_I	286	0.02	7	NM_152536	3	0.00	0	B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	ENST00000285046.5	37	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.103466	0.76983	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.63913	-0.07;-0.07	4.49	4.49	0.54785	Dbl homology (DH) domain (5);	0.000000	0.53938	D	0.000056	T	0.68458	0.3003	M	0.75777	2.31	0.46078	D	0.998857	P;P	0.52316	0.952;0.887	P;P	0.51582	0.599;0.674	T	0.69960	-0.5003	10	0.41790	T	0.15	-31.4473	10.483	0.44704	1.0:0.0:0.0:0.0	.	827;1068	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	R	1068;827	ENSP00000285046:Q1068R;ENSP00000445949:Q827R	ENSP00000285046:Q1068R	Q	+	2	0	FGD5	14916962	1.000000	0.71417	0.969000	0.41365	0.910000	0.53928	4.421000	0.59848	1.793000	0.52555	0.482000	0.46254	CAG			0.567	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340628.1		NM_152536	
CACNA1D	776	broad.mit.edu	37	3	53839099	53839099	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:53839099A>G	ENST00000350061.5	+	45	6186	c.5675A>G	c.(5674-5676)gAg>gGg	p.E1892G	CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1868G|CACNA1D_ENST00000544977.1_Missense_Mutation_p.E271G|CACNA1D_ENST00000288139.4_Missense_Mutation_p.E1912G	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1892					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGATTCTTGGAGGACGATGAC	0.532																																					p.E1912G													.	CACNA1D	324		0			c.A5735G												98.0	95.0	96.0					3																	53839099		2203	4300	6503	SO:0001583	missense	776	exon46			TCTTGGAGGACGA	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5675A>G	3.37:g.53839099A>G	ENSP00000288133:p.Glu1892Gly		Somatic	64	0.015625	1		WXS	Illumina HiSeq	Phase_I	89	0.03	3	NM_000720	0		0	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.123894	0.56613	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	T;T;T;T;T	0.59638	0.25;0.25;0.25;0.25;0.25	4.8	4.8	0.61643	.	0.468641	0.16989	N	0.191372	T	0.50718	0.1632	L	0.55834	1.745	0.53688	D	0.999972	B;B;P;B	0.35174	0.003;0.06;0.488;0.051	B;B;B;B	0.29862	0.004;0.031;0.108;0.046	T	0.49173	-0.8967	10	0.25751	T	0.34	.	14.7133	0.69249	1.0:0.0:0.0:0.0	.	1868;1585;1892;1912	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	G	1892;1912;1868;1585;271	ENSP00000288133:E1892G;ENSP00000288139:E1912G;ENSP00000409174:E1868G;ENSP00000418014:E1585G;ENSP00000440956:E271G	ENSP00000288139:E1912G	E	+	2	0	CACNA1D	53814139	1.000000	0.71417	0.941000	0.38009	0.907000	0.53573	8.664000	0.91139	1.952000	0.56665	0.529000	0.55759	GAG			0.532	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000350557.1		NM_000720	
PRICKLE2	166336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	64133021	64133021	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:64133021G>A	ENST00000295902.6	-	7	1730	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S438F	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	382					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGTCTGGCTGGACAGGCTGAG	0.602																																					p.S382F													PRICKLE2,colon,carcinoma,-1,1	PRICKLE2	-1	1	0			c.C1145T												78.0	87.0	84.0					3																	64133021		2203	4300	6503	SO:0001583	missense	166336	exon7			TGGCTGGACAGGC	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1145C>T	3.37:g.64133021G>A	ENSP00000295902:p.Ser382Phe		Somatic	80	0	0		WXS	Illumina HiSeq	.	78	0.45	35	NM_198859	2	0.00	0	Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.215336	0.39102	.	.	ENSG00000163637	ENST00000295902	T	0.62788	0.0	5.94	5.07	0.68467	.	0.080572	0.52532	D	0.000062	T	0.62756	0.2454	L	0.54323	1.7	0.58432	D	0.999992	P	0.42123	0.771	B	0.43575	0.424	T	0.65059	-0.6260	10	0.49607	T	0.09	-37.2493	15.3172	0.74089	0.0671:0.0:0.9329:0.0	.	382	Q7Z3G6	PRIC2_HUMAN	F	382	ENSP00000295902:S382F	ENSP00000295902:S382F	S	-	2	0	PRICKLE2	64108061	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	9.675000	0.98638	1.529000	0.49120	-0.291000	0.09656	TCC			0.602	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000352219.1		NM_198859	
MYH15	22989	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	108189650	108189650	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:108189650C>G	ENST00000273353.3	-	14	1394	c.1338G>C	c.(1336-1338)agG>agC	p.R446S		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	446	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACTTAAACATCCTTTCATACA	0.453																																					p.R446S													.	.			0			c.G1338C												105.0	95.0	98.0					3																	108189650		1988	4172	6160	SO:0001583	missense	22989	exon14			AAACATCCTTTCA	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1338G>C	3.37:g.108189650C>G	ENSP00000273353:p.Arg446Ser		Somatic	140	0	0		WXS	Illumina HiSeq	.	170	0.14	24	NM_014981	0		0		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513047	0.64522	.	.	ENSG00000144821	ENST00000273353	D	0.89196	-2.48	5.77	1.97	0.26223	Myosin head, motor domain (2);	.	.	.	.	D	0.91901	0.7436	M	0.87180	2.865	0.29556	N	0.850966	P	0.37914	0.611	P	0.52627	0.704	D	0.86694	0.1925	9	0.87932	D	0	.	1.3328	0.02138	0.1402:0.3789:0.1366:0.3443	.	446	Q9Y2K3	MYH15_HUMAN	S	446	ENSP00000273353:R446S	ENSP00000273353:R446S	R	-	3	2	MYH15	109672340	0.013000	0.17824	0.318000	0.25279	0.988000	0.76386	-0.429000	0.06982	0.075000	0.16796	0.650000	0.86243	AGG			0.453	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000353935.1		XM_036988	
MED12L	116931	broad.mit.edu	37	3	150881773	150881773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:150881773C>T	ENST00000474524.1	+	8	1239	c.1201C>T	c.(1201-1203)Cag>Tag	p.Q401*	MED12L_ENST00000422248.2_Nonsense_Mutation_p.Q401*|MED12L_ENST00000309237.4_Nonsense_Mutation_p.Q401*|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	401			Q -> P (in dbSNP:rs17290219).			mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGATCTGCTGCAGGTGGCCCC	0.507																																					p.Q401X													.	MED12L	271		0			c.C1201T												58.0	56.0	57.0					3																	150881773		2203	4300	6503	SO:0001587	stop_gained	116931	exon8			CTGCTGCAGGTGG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1201C>T	3.37:g.150881773C>T	ENSP00000417235:p.Gln401*		Somatic	130	0	0		WXS	Illumina HiSeq	Phase_I	181	0.02	4	NM_053002	7	0.00	0	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Nonsense_Mutation	SNP	ENST00000474524.1	37	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	37	5.997566	0.97184	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524	.	.	.	5.02	5.02	0.67125	.	0.066654	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7353	17.9376	0.89017	0.0:1.0:0.0:0.0	.	.	.	.	X	401	.	ENSP00000310760:Q401X	Q	+	1	0	MED12L	152364463	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	7.082000	0.76851	2.317000	0.78254	0.655000	0.94253	CAG			0.507	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000357707.2		NM_053002	
FGF12	2257	mdanderson.org	37	3	192125818	192125818	+	Silent	SNP	T	T	C			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr3:192125818T>C	ENST00000454309.2	-	1	1020	c.195A>G	c.(193-195)agA>agG	p.R65R	FGF12_ENST00000264730.3_Intron|FGF12_ENST00000450716.1_Intron|FGF12_ENST00000430714.1_Intron|FGF12_ENST00000445105.2_Intron	NM_021032.4	NP_066360.1	P61328	FGF12_HUMAN	fibroblast growth factor 12	65					adult locomotory behavior (GO:0008344)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell-cell signaling (GO:0007267)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|JNK cascade (GO:0007254)|negative regulation of cation channel activity (GO:2001258)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|regulation of membrane depolarization (GO:0003254)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular space (GO:0005615)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		ACTGACCTGGTCTCCGCCTCA	0.662																																					p.R65R													.	.			0			c.A195G												67.0	78.0	74.0					3																	192125818		2169	4242	6411	SO:0001819	synonymous_variant	2257	exon1			ACCTGGTCTCCGC	U66197	CCDS3301.1, CCDS46983.1	3q28	2008-07-18			ENSG00000114279	ENSG00000114279			3668	protein-coding gene	gene with protein product	"""fibroblast growth factor 12B"", ""fibroblast growth factor homologous factor 1"", ""myocyte-activating factor"", ""fibroblast growth factor FGF-12b"""	601513		FGF12B		8790420, 9345906	Standard	NM_021032		Approved	FHF1	uc003fsx.3	P61328	OTTHUMG00000156132	ENST00000454309.2:c.195A>G	3.37:g.192125818T>C			Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_021032	1	0.00	0	B2R6B7|B2R976|O35339|P70376|Q8TBG5|Q92912|Q93001	Silent	SNP	ENST00000454309.2	37	CCDS3301.1																																																																																					0.662	FGF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000343160.1		NM_021032	
GAK	2580	mdanderson.org	37	4	877844	877844	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr4:877844G>T	ENST00000314167.4	-	12	1346	c.1236C>A	c.(1234-1236)taC>taA	p.Y412*	GAK_ENST00000511163.1_Nonsense_Mutation_p.Y333*	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	412	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TGGATGTGATGTAAGATATGT	0.517																																					p.Y412X													.	.			0			c.C1236A												127.0	106.0	113.0					4																	877844		2203	4300	6503	SO:0001587	stop_gained	2580	exon12			TGTGATGTAAGAT	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.1236C>A	4.37:g.877844G>T	ENSP00000314499:p.Tyr412*		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	86	0.05	4	NM_005255	64	0.00	0	Q5U4P5|Q9BVY6	Nonsense_Mutation	SNP	ENST00000314167.4	37	CCDS3340.1	.	.	.	.	.	.	.	.	.	.	G	40	8.376798	0.98784	.	.	ENSG00000178950	ENST00000314167;ENST00000511163	.	.	.	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.4656	16.906	0.86128	0.0:0.0:1.0:0.0	.	.	.	.	X	412;333	.	ENSP00000314499:Y412X	Y	-	3	2	GAK	867844	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.048000	0.49862	2.661000	0.90470	0.655000	0.94253	TAC			0.517	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000239188.1		NM_005255	
WHSC1	7468	mdanderson.org	37	4	1978397	1978397	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr4:1978397C>T	ENST00000382895.3	+	23	4248	c.3817C>T	c.(3817-3819)Cgg>Tgg	p.R1273W	WHSC1_ENST00000382888.3_Missense_Mutation_p.R621W|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.R1273W|WHSC1_ENST00000382892.2_Missense_Mutation_p.R1273W|SCARNA22_ENST00000503991.1_RNA|WHSC1_ENST00000382891.5_Missense_Mutation_p.R1273W	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	1273					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CCTTGGCAAGCGGCCCTTCGG	0.672			T	IGH@	MM																																p.R1273W				Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	.			0			c.C3817T												51.0	37.0	42.0					4																	1978397		2200	4297	6497	SO:0001583	missense	7468	exon21			GGCAAGCGGCCCT	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.3817C>T	4.37:g.1978397C>T	ENSP00000372351:p.Arg1273Trp		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	51	0.06	3	NM_133335	40	0.00	0	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508976	0.64410	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	D;D;D;D;D	0.95103	-3.61;-3.61;-3.61;-3.61;-3.61	4.79	3.04	0.35103	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.294153	0.24143	N	0.041156	D	0.94102	0.8109	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.952;0.999	D	0.92132	0.5713	10	0.56958	D	0.05	.	7.3187	0.26515	0.2997:0.6229:0.0:0.0774	.	621;1273	A2A2T2;O96028	.;NSD2_HUMAN	W	1273;1273;1273;1273;621	ENSP00000423972:R1273W;ENSP00000372347:R1273W;ENSP00000372348:R1273W;ENSP00000372351:R1273W;ENSP00000372344:R621W	ENSP00000372344:R621W	R	+	1	2	WHSC1	1948195	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.415000	0.44635	0.597000	0.29811	0.557000	0.71058	CGG			0.672	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000366269.2		NM_133330	
HTT	3064	broad.mit.edu	37	4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-	rs71180116|rs374076986	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS_ENST00000503893.1_RNA	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704																																					p.18_18del													.	HTT	221		0			c.52_54del																																									SO:0001651	inframe_deletion	3064	exon1			TCCTTCCAGCAGC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.52_54delCAG	4.37:g.3076613_3076615delCAG	ENSP00000347184:p.Gln38del		Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	8	0.38	3	NM_002111	4	0.00	0	Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	CCDS43206.1																																																																																					0.704	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000358234.2		NM_002111	
TRIO	7204	mdanderson.org	37	5	14507271	14507271	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr5:14507271G>T	ENST00000344204.4	+	56	8677	c.8653G>T	c.(8653-8655)Gga>Tga	p.G2885*	TRIO_ENST00000537187.1_Nonsense_Mutation_p.G2709*|TRIO_ENST00000344135.5_Nonsense_Mutation_p.G384*	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2885	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGCGATGGGGAAGCCTCAC	0.582																																					p.G2885X													.	.			0			c.G8653T												70.0	63.0	66.0					5																	14507271		2203	4300	6503	SO:0001587	stop_gained	7204	exon56			CGATGGGGAAGCC	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.8653G>T	5.37:g.14507271G>T	ENSP00000339299:p.Gly2885*		Somatic	40	0	0		WXS	Illumina HiSeq	Phase_I	37	0.08	3	NM_007118	24	0.00	0	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Nonsense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	G	50	16.649316	0.99868	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000344135	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	19.6939	0.96016	0.0:0.0:1.0:0.0	.	.	.	.	X	2885;2709;384	.	ENSP00000339291:G384X	G	+	1	0	TRIO	14560271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.831000	0.99420	2.643000	0.89663	0.655000	0.94253	GGA			0.582	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253711.2		NM_007118	
MEGF10	84466	broad.mit.edu	37	5	126758405	126758405	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr5:126758405G>T	ENST00000274473.6	+	14	1901	c.1634G>T	c.(1633-1635)aGc>aTc	p.S545I	MEGF10_ENST00000508365.1_Missense_Mutation_p.S545I|MEGF10_ENST00000418761.2_Missense_Mutation_p.S545I|MEGF10_ENST00000503335.2_Missense_Mutation_p.S545I	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	545	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCGACTGCAGCCACGCAGAT	0.597																																					p.S545I													.	MEGF10	152		0			c.G1634T												40.0	38.0	39.0					5																	126758405		2203	4300	6503	SO:0001583	missense	84466	exon14			ACTGCAGCCACGC	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1634G>T	5.37:g.126758405G>T	ENSP00000274473:p.Ser545Ile		Somatic	147	0.0136054422	2		WXS	Illumina HiSeq	Phase_I	140	0.05	7	NM_032446	2	0.00	0	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781470	0.70222	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.51071	0.72;0.72;0.72;0.72	5.28	5.28	0.74379	EGF-like, laminin (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.57373	0.2049	M	0.67397	2.05	0.80722	D	1	B;P	0.46457	0.046;0.878	B;P	0.48114	0.041;0.567	T	0.56323	-0.7998	10	0.37606	T	0.19	-32.7821	19.2744	0.94026	0.0:0.0:1.0:0.0	.	545;545	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	I	545	ENSP00000423354:S545I;ENSP00000423195:S545I;ENSP00000416284:S545I;ENSP00000274473:S545I	ENSP00000274473:S545I	S	+	2	0	MEGF10	126786304	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.704000	0.68347	2.636000	0.89361	0.650000	0.86243	AGC			0.597	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250973.2		NM_032446	
HIST1H4A	8359	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	26021940	26021940	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:26021940G>A	ENST00000359907.3	+	1	34	c.34G>A	c.(34-36)Ggt>Agt	p.G12S		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	12					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|skin(1)	2						GAAGGGTTTGGGTAAGGGGGG	0.562																																					p.G12S													.	.			0			c.G34A												54.0	56.0	55.0					6																	26021940		2203	4300	6503	SO:0001583	missense	8359	exon1			GGTTTGGGTAAGG	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"""Histones / Replication-dependent"""	4781	protein-coding gene	gene with protein product		602822	"""H4 histone family, member A"", ""histone 1, H4a"""	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.34G>A	6.37:g.26021940G>A	ENSP00000352980:p.Gly12Ser		Somatic	132	0	0		WXS	Illumina HiSeq	.	131	0.10	13	NM_003538	0		0	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	CCDS4571.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	20.7|20.7	4.030338|4.030338	0.75504|0.75504	.|.	.|.	ENSG00000196176|ENSG00000196176	ENST00000358910|ENST00000359907	.|.	.|.	.|.	3.79|3.79	3.79|3.79	0.43588|0.43588	.|.	0.000000|.	0.38897|.	U|.	0.001521|.	T|T	0.67979|0.67979	0.2951|0.2951	.|.	.|.	.|.	0.46078|0.46078	D|D	0.998853|0.998853	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.73572|0.73572	-0.3940|-0.3940	6|5	0.37606|0.66056	T|D	0.19|0.02	.|.	15.5278|15.5278	0.75925|0.75925	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	T|S	12|12	.|.	ENSP00000445096:A12T|ENSP00000352980:G12S	A|G	+|+	1|1	0|0	HIST1H4A|HIST1H4A	26129919|26129919	1.000000|1.000000	0.71417|0.71417	0.053000|0.053000	0.19242|0.19242	0.995000|0.995000	0.86356|0.86356	9.231000|9.231000	0.95317|0.95317	2.033000|2.033000	0.60031|0.60031	0.655000|0.655000	0.94253|0.94253	GCT|GGT			0.562	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040081.1		NM_003538	
MUC21	394263	broad.mit.edu	37	6	30954813	30954813	+	Silent	SNP	T	T	C	rs9262371		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:30954813T>C	ENST00000376296.3	+	2	1102	c.861T>C	c.(859-861)aaT>aaC	p.N287N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	287	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTCACCAATTCTGAGTCCA	0.602																																					p.N287N													.	MUC21	98		0			c.T861C												206.0	198.0	201.0					6																	30954813		2203	4300	6503	SO:0001819	synonymous_variant	394263	exon2			CACCAATTCTGAG	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.861T>C	6.37:g.30954813T>C			Somatic	82	0.012195122	1		WXS	Illumina HiSeq	Phase_I	66	0.06	4	NM_001010909	0		0	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	ENST00000376296.3	37	CCDS34388.1																																																																																					0.602	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000128579.3		NM_001010909	
ANKRD6	22881	broad.mit.edu	37	6	90276712	90276712	+	Missense_Mutation	SNP	C	C	T	rs200814043		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:90276712C>T	ENST00000522441.1	+	2	658	c.17C>T	c.(16-18)gCg>gTg	p.A6V	ANKRD6_ENST00000520793.1_Missense_Mutation_p.A6V|ANKRD6_ENST00000369408.5_Missense_Mutation_p.A6V|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A6V|RP11-16C18.3_ENST00000425588.1_RNA|RP11-16C18.3_ENST00000438267.1_RNA|ANKRD6_ENST00000485637.1_Missense_Mutation_p.A6V|ANKRD6_ENST00000339746.4_Missense_Mutation_p.A6V|ANKRD6_ENST00000520886.2_Intron	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	6					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CAGCAAGATGCGGTCGCTGCA	0.542																																					p.A6V													.	ANKRD6	51		0			c.C17T												51.0	50.0	50.0					6																	90276712		1968	4154	6122	SO:0001583	missense	22881	exon2			AAGATGCGGTCGC	AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.17C>T	6.37:g.90276712C>T	ENSP00000430985:p.Ala6Val		Somatic	223	0.0089686099	2		WXS	Illumina HiSeq	Phase_I	273	0.02	6	NM_001242809	4	0.00	0	B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Missense_Mutation	SNP	ENST00000522441.1	37	CCDS56441.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.802800	0.50315	.	.	ENSG00000135299	ENST00000369408;ENST00000339746;ENST00000447838;ENST00000520458;ENST00000465722;ENST00000523798;ENST00000522441;ENST00000522779;ENST00000485637;ENST00000522705;ENST00000518150;ENST00000520793	T;T;T;T;T;T;T;T;T;T	0.68331	1.11;1.15;1.14;0.44;-0.26;0.77;1.15;-0.32;1.09;-0.32	5.89	2.65	0.31530	.	0.129187	0.35320	N	0.003287	T	0.18551	0.0445	N	0.08118	0	0.34072	D	0.658613	B;B;B;B	0.14438	0.008;0.001;0.001;0.01	B;B;B;B	0.09377	0.003;0.002;0.004;0.002	T	0.03443	-1.1036	10	0.22109	T	0.4	-9.2324	3.5245	0.07755	0.1892:0.4911:0.0:0.3197	.	6;6;6;6	B3KUC3;Q9Y2G4;Q9Y2G4-1;C9JJE8	.;ANKR6_HUMAN;.;.	V	6	ENSP00000358416:A6V;ENSP00000345767:A6V;ENSP00000396771:A6V;ENSP00000431061:A6V;ENSP00000429431:A6V;ENSP00000428377:A6V;ENSP00000430985:A6V;ENSP00000430954:A6V;ENSP00000428309:A6V;ENSP00000429782:A6V	ENSP00000345767:A6V	A	+	2	0	ANKRD6	90333431	0.539000	0.26402	0.998000	0.56505	0.959000	0.62525	0.529000	0.23019	0.788000	0.33755	0.655000	0.94253	GCG			0.542	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000376594.1			
TTLL2	83887	mdanderson.org	37	6	167754661	167754661	+	Nonsense_Mutation	SNP	A	A	T	rs909545	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr6:167754661A>T	ENST00000239587.5	+	3	1361	c.1273A>T	c.(1273-1275)Aga>Tga	p.R425*		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	425	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.		R -> G (in dbSNP:rs909545). {ECO:0000269|PubMed:14574404, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.		cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AAATGAGGGGAGAGAAGCCAG	0.423																																					p.R425X													.	.			0			c.A1273T												80.0	83.0	82.0					6																	167754661		2203	4300	6503	SO:0001587	stop_gained	83887	exon3			GAGGGGAGAGAAG	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.1273A>T	6.37:g.167754661A>T	ENSP00000239587:p.Arg425*		Somatic	98	0	0		WXS	Illumina HiSeq	Phase_I	105	0.03	3	NM_031949	0		0	B2RB11|B3KS77|Q7Z6R8|Q86X22	Nonsense_Mutation	SNP	ENST00000239587.5	37	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235921	0.79800	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	.	.	.	3.61	2.4	0.29515	.	0.877204	0.09712	N	0.765518	.	.	.	.	.	.	0.09310	P	0.9999999999983548	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.1006	0.36667	0.8143:0.1857:0.0:0.0	.	.	.	.	X	425;352	.	ENSP00000239587:R425X	R	+	1	2	TTLL2	167674651	0.000000	0.05858	0.001000	0.08648	0.041000	0.13682	0.319000	0.19522	0.545000	0.28902	0.402000	0.26972	AGA			0.423	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000043127.3		NM_031949	
SDK1	221935	broad.mit.edu	37	7	3681699	3681699	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:3681699G>T	ENST00000404826.2	+	4	814	c.675G>T	c.(673-675)tgG>tgT	p.W225C	SDK1_ENST00000389531.3_Missense_Mutation_p.W225C|AC011284.3_ENST00000427920.1_RNA	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	225	Ig-like C2-type 2.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AAGTGACTTGGTTTAGAGAAG	0.448																																					p.W225C													SDK1,bladder,carcinoma,+1,1	SDK1	361	1	0			c.G675T												104.0	93.0	97.0					7																	3681699		2203	4300	6503	SO:0001583	missense	221935	exon4			GACTTGGTTTAGA	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.675G>T	7.37:g.3681699G>T	ENSP00000385899:p.Trp225Cys		Somatic	118	0	0		WXS	Illumina HiSeq	Phase_I	130	0.04	5	NM_152744	3	0.00	0	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.533293	0.85812	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	D;D	0.96300	-3.97;-3.97	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000811	D	0.98969	0.9649	H	0.98256	4.185	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99360	1.0917	10	0.87932	D	0	.	18.0799	0.89439	0.0:0.0:1.0:0.0	.	225	Q7Z5N4	SDK1_HUMAN	C	225	ENSP00000385899:W225C;ENSP00000374182:W225C	ENSP00000374182:W225C	W	+	3	0	SDK1	3648225	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.670000	0.91168	2.703000	0.92315	0.650000	0.86243	TGG			0.448	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000323702.1		NM_152744	
SP8	221833	broad.mit.edu;mdanderson.org	37	7	20824970	20824970	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:20824970C>T	ENST00000361443.4	-	3	649	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	SP8_ENST00000418710.2_Missense_Mutation_p.G156S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	138					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ccgccgccgccgctgcccccg	0.761																																					p.G156S													.	SP8	43		0			c.G466A																																									SO:0001583	missense	221833	exon2			CGCCGCCGCTGCC		CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.412G>A	7.37:g.20824970C>T	ENSP00000354482:p.Gly138Ser		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	59	0.07	4	NM_182700	2	0.00	0	Q7Z615|Q7Z616|Q96MJ1	Missense_Mutation	SNP	ENST00000361443.4	37	CCDS5372.1	.	.	.	.	.	.	.	.	.	.	C	6.365	0.435495	0.12045	.	.	ENSG00000164651	ENST00000418710;ENST00000361443	D;D	0.81821	-1.54;-1.54	3.09	2.16	0.27623	.	0.366549	0.17990	U	0.155235	T	0.58308	0.2113	N	0.08118	0	0.31008	N	0.719562	D;D	0.55605	0.972;0.972	B;B	0.41860	0.368;0.368	T	0.60005	-0.7347	10	0.08837	T	0.75	.	10.7467	0.46185	0.1919:0.8081:0.0:0.0	.	138;138	Q7Z615;Q8IXZ3	.;SP8_HUMAN	S	156;138	ENSP00000408792:G156S;ENSP00000354482:G138S	ENSP00000354482:G138S	G	-	1	0	SP8	20791495	.	.	0.969000	0.41365	0.291000	0.27294	.	.	0.455000	0.26910	0.306000	0.20318	GGC			0.761	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000326904.2			
BBS9	27241	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	33407379	33407380	+	Splice_Site	INS	-	-	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:33407379_33407380insT	ENST00000242067.6	+	17	2215_2216	c.1694_1695insT	c.(1693-1698)ggtttt>ggTtttt	p.GF565fs	BBS9_ENST00000350941.3_Splice_Site_p.GF525fs|BBS9_ENST00000354265.4_Splice_Site_p.GF530fs|BBS9_ENST00000396127.2_Splice_Site_p.GF530fs|BBS9_ENST00000355070.2_Splice_Site_p.GF560fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	565					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTCTTTGTAGGTTTTGCCAGTC	0.376									Bardet-Biedl syndrome																												p.G565fs													.	BBS9	194		0			c.1694_1695insT																																									SO:0001630	splice_region_variant	27241	exon17	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	TTGTAGGTTTTGC		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1694-1->T	7.37:g.33407383_33407383dupT			Somatic	133	0	0		WXS	Illumina HiSeq	.	116	0.34	39	NM_198428	20	0.00	0	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Ins	INS	ENST00000242067.6	37	CCDS43566.1																																																																																					0.376	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000329064.1			Frame_Shift_Ins
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																					.													.	.			0			.																																											0	.			TCTTGCGCAGAAT	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T			Somatic	122	0	0		WXS	Illumina HiSeq	Phase_I	217	0.03	6	.	17	0.00	0		RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345507.1		NR_003110	
PON1	5444	broad.mit.edu	37	7	94944672	94944672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:94944672G>T	ENST00000222381.3	-	4	563	c.332C>A	c.(331-333)tCa>tAa	p.S111*	PON1_ENST00000542556.1_Nonsense_Mutation_p.S111*	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	111					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	AGGGTTAAATGAAGATACATC	0.343																																					p.S111X	GBM(119;715 1622 17358 22490 33240)												PON1,NS,carcinoma,0,1	PON1	55	1	0			c.C332A												110.0	104.0	106.0					7																	94944672		2203	4300	6503	SO:0001587	stop_gained	5444	exon4			TTAAATGAAGATA	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.332C>A	7.37:g.94944672G>T	ENSP00000222381:p.Ser111*		Somatic	180	0.0055555556	1		WXS	Illumina HiSeq	Phase_I	272	0.02	5	NM_000446	0		0	B2RA40|Q16052|Q6B0J6|Q9UCB1	Nonsense_Mutation	SNP	ENST00000222381.3	37	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	G	35	5.416545	0.96092	.	.	ENSG00000005421	ENST00000222381;ENST00000542556	.	.	.	5.06	5.06	0.68205	.	0.125924	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.0561	19.0004	0.92830	0.0:0.0:1.0:0.0	.	.	.	.	X	111	.	ENSP00000222381:S111X	S	-	2	0	PON1	94782608	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	8.975000	0.93437	2.804000	0.96469	0.650000	0.86243	TCA			0.343	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000332865.2		NM_000446	
ZAN	7455	broad.mit.edu	37	7	100349865	100349865	+	RNA	SNP	T	T	C			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:100349865T>C	ENST00000348028.3	+	0	2302				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.502																																					.													.	ZAN	658		0			.												169.0	188.0	183.0					7																	100349865		1832	4081	5913			7455	.			ACCATCTCCCCAG	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349865T>C			Somatic	111	0.045045045	5		WXS	Illumina HiSeq	Phase_I	221	0.07	15	.	3	0.00	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	t	6.727	0.502929	0.12822	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63255	-0.03;-0.03;-0.03	3.09	-4.12	0.03916	.	.	.	.	.	T	0.23766	0.0575	N	0.00771	-1.2	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.13255	-1.0516	9	0.33940	T	0.23	.	4.1454	0.10214	0.2418:0.2807:0.0:0.4775	.	713;713	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	713	ENSP00000445943:S713P;ENSP00000445091:S713P;ENSP00000444427:S713P	ENSP00000423579:S713P	S	+	1	0	ZAN	100187801	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.082000	0.00613	-1.056000	0.03205	-1.117000	0.02048	TCC			0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene		OTTHUMT00000347214.1		NM_003386	
MUC17	140453	broad.mit.edu	37	7	100686191	100686191	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:100686191G>T	ENST00000306151.4	+	3	11558	c.11494G>T	c.(11494-11496)Gcc>Tcc	p.A3832S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3832	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTTCTGAGGCCAGCACACT	0.488																																					p.A3832S													.	MUC17	804		0			c.G11494T												103.0	92.0	95.0					7																	100686191		2203	4300	6503	SO:0001583	missense	140453	exon3			TCTGAGGCCAGCA	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11494G>T	7.37:g.100686191G>T	ENSP00000302716:p.Ala3832Ser		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	152	0.03	4	NM_001040105	0		0	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	10.11	1.259248	0.23051	.	.	ENSG00000169876	ENST00000306151	T	0.02121	4.44	1.31	-2.61	0.06171	.	.	.	.	.	T	0.01870	0.0059	N	0.19112	0.55	0.09310	N	1	D	0.55385	0.971	P	0.52909	0.713	T	0.19353	-1.0308	9	0.07325	T	0.83	.	1.5269	0.02527	0.4489:0.0:0.2475:0.3036	.	3832	Q685J3	MUC17_HUMAN	S	3832	ENSP00000302716:A3832S	ENSP00000302716:A3832S	A	+	1	0	MUC17	100472911	0.000000	0.05858	0.000000	0.03702	0.336000	0.28762	-2.561000	0.00921	-1.110000	0.02992	0.187000	0.17357	GCC			0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347161.1		NM_001040105	
TRIM24	8805	broad.mit.edu	37	7	138239517	138239517	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:138239517C>T	ENST00000343526.4	+	9	1551	c.1336C>T	c.(1336-1338)Cag>Tag	p.Q446*	TRIM24_ENST00000415680.2_Nonsense_Mutation_p.Q446*|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	446					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACAGAATTCACAGCCACCAAG	0.433																																					p.Q446X	Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												.	TRIM24	131		0			c.C1336T												108.0	108.0	108.0					7																	138239517		2203	4300	6503	SO:0001587	stop_gained	8805	exon9			AATTCACAGCCAC	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1336C>T	7.37:g.138239517C>T	ENSP00000340507:p.Gln446*		Somatic	384	0.0026041667	1		WXS	Illumina HiSeq	Phase_I	641	0.01	5	NM_003852	88	0.00	0	A4D1R7|A4D1R8|O95854	Nonsense_Mutation	SNP	ENST00000343526.4	37	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	C	41	8.610022	0.98884	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	.	.	.	5.43	5.43	0.79202	.	0.146525	0.51477	D	0.000100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-11.6646	18.8417	0.92186	0.0:1.0:0.0:0.0	.	.	.	.	X	446;357;446;404	.	ENSP00000340507:Q446X	Q	+	1	0	TRIM24	137890057	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.311000	0.65786	2.544000	0.85801	0.557000	0.71058	CAG			0.433	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000341814.1		NM_015905	
YWHAZ	7534	mdanderson.org	37	8	101960892	101960892	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr8:101960892G>T	ENST00000395957.2	-	3	567	c.226C>A	c.(226-228)Cag>Aag	p.Q76K	YWHAZ_ENST00000353245.3_Missense_Mutation_p.Q76K|YWHAZ_ENST00000395956.3_Missense_Mutation_p.Q76K|YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000419477.2_Missense_Mutation_p.Q76K|YWHAZ_ENST00000395953.2_Missense_Mutation_p.Q76K|YWHAZ_ENST00000457309.1_Missense_Mutation_p.Q76K|YWHAZ_ENST00000395948.2_5'UTR|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000395958.2_Missense_Mutation_p.Q76K|YWHAZ_ENST00000395951.3_Missense_Mutation_p.Q76K			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	76					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			GCCATCTGCTGTTTTTTCTCA	0.418																																					p.Q76K													.	.			0			c.C226A												195.0	203.0	200.0					8																	101960892		2203	4297	6500	SO:0001583	missense	7534	exon2			TCTGCTGTTTTTT	U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.226C>A	8.37:g.101960892G>T	ENSP00000379287:p.Gln76Lys		Somatic	40	0.025	1		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_001135699	2114	0.00	3	A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	ENST00000395957.2	37	CCDS6290.1	.	.	.	.	.	.	.	.	.	.	G	13.09	2.132271	0.37630	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000395953;ENST00000395951;ENST00000419477;ENST00000521607;ENST00000521328;ENST00000418997;ENST00000437293	T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.68	5.68	0.88126	14-3-3 domain (4);	0.000000	0.64402	D	0.000003	T	0.39489	0.1080	L	0.38531	1.155	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.16837	-1.0389	10	0.72032	D	0.01	.	19.7959	0.96481	0.0:0.0:1.0:0.0	.	76;76	D0PNI1;P63104	.;1433Z_HUMAN	K	76	ENSP00000379287:Q76K;ENSP00000398599:Q76K;ENSP00000379288:Q76K;ENSP00000379286:Q76K;ENSP00000309503:Q76K;ENSP00000379283:Q76K;ENSP00000379281:Q76K;ENSP00000395114:Q76K;ENSP00000430058:Q76K;ENSP00000429041:Q76K;ENSP00000416551:Q76K;ENSP00000394880:Q76K	ENSP00000309503:Q76K	Q	-	1	0	YWHAZ	102030068	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.565000	0.67365	2.689000	0.91719	0.655000	0.94253	CAG			0.418	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259017.2		NM_145690	
PRSS3	5646	mdanderson.org	37	9	33794809	33794809	+	Intron	SNP	G	G	A	rs201061108		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr9:33794809G>A	ENST00000361005.5	+	2	211				PRSS3_ENST00000379405.3_5'Flank|PRSS3_ENST00000429677.3_Intron|PRSS3_ENST00000342836.4_Missense_Mutation_p.S7N|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			AGAGAGACAAGTGGCTTCACA	0.502																																					p.S7N													.	.			0			c.G20A																																									SO:0001627	intron_variant	5646	exon2			AGACAAGTGGCTT		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.212-1832G>A	9.37:g.33794809G>A			Somatic	60	0.0333333333	2		WXS	Illumina HiSeq	Phase_I	90	0.17	15	NM_001197097	0		0	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	SNP	ENST00000361005.5	37	CCDS47958.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.932356	0.00488	.	.	ENSG00000010438	ENST00000457896;ENST00000342836	D;D	0.88741	-2.29;-2.42	1.75	-2.5	0.06384	.	.	.	.	.	T	0.69260	0.3091	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.59096	-0.7518	9	0.02654	T	1	.	5.9988	0.19509	0.4674:0.0:0.5326:0.0	.	7	P35030-4	.	N	5;7	ENSP00000401249:S5N;ENSP00000340889:S7N	ENSP00000340889:S7N	S	+	2	0	PRSS3	33784809	0.000000	0.05858	0.000000	0.03702	0.136000	0.21042	-1.129000	0.03244	-0.673000	0.05259	-1.096000	0.02151	AGT			0.502	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000052121.1		NM_002771	
RGS3	5998	broad.mit.edu	37	9	116303614	116303614	+	Intron	SNP	C	C	G	rs201201135		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr9:116303614C>G	ENST00000374140.2	+	20	2246				RGS3_ENST00000343817.5_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000317613.6_Missense_Mutation_p.F572L|RGS3_ENST00000374136.1_Missense_Mutation_p.F310L|RGS3_ENST00000394646.3_Intron	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3						inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACCCTTTCGGCTCTCTCC	0.552																																					p.F572L													.	RGS3	251		0			c.C1716G												219.0	236.0	230.0					9																	116303614		2203	4300	6503	SO:0001627	intron_variant	5998	exon18			CCCTTTCGGCTCT	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.2037+4416C>G	9.37:g.116303614C>G			Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	90	0.04	4	NM_017790	0		0	A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	9.293	1.050995	0.19827	.	.	ENSG00000138835	ENST00000317613;ENST00000374136	T	0.33865	1.39	5.51	2.5	0.30297	.	.	.	.	.	T	0.18383	0.0441	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.04128	-1.0975	9	0.62326	D	0.03	.	7.8377	0.29380	0.0:0.7426:0.0:0.2574	.	310;572	Q5VXC0;P49796-5	.;.	L	572;310	ENSP00000312844:F572L	ENSP00000312844:F572L	F	+	3	2	RGS3	115343435	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.426000	0.21363	0.210000	0.20664	0.655000	0.94253	TTC			0.552	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055561.3		NM_017790	
IGSF1	3547	broad.mit.edu	37	X	130412689	130412689	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chrX:130412689G>T	ENST00000361420.3	-	12	1866	c.1787C>A	c.(1786-1788)gCa>gAa	p.A596E	IGSF1_ENST00000370904.1_Missense_Mutation_p.A587E|IGSF1_ENST00000370903.3_Missense_Mutation_p.A601E|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.A587E			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	596	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GTTGGTCTCTGCCCACAGCTC	0.542																																					p.A601E													.	IGSF1	231		0			c.C1802A												66.0	66.0	66.0					X																	130412689		2203	4297	6500	SO:0001583	missense	3547	exon12			GTCTCTGCCCACA	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1787C>A	X.37:g.130412689G>T	ENSP00000355010:p.Ala596Glu		Somatic	155	0	0		WXS	Illumina HiSeq	Phase_I	264	0.02	5	NM_001170961	40	0.00	0	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	g	15.82	2.946229	0.53079	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00892	5.57;5.57;5.57;5.57	5.09	4.21	0.49690	Immunoglobulin-like fold (1);	0.445048	0.21333	N	0.076275	T	0.04907	0.0132	M	0.82630	2.6	0.34986	D	0.754598	D;D;D	0.76494	0.994;0.999;0.999	D;D;D	0.83275	0.945;0.99;0.996	T	0.03231	-1.1058	10	0.87932	D	0	.	7.7911	0.29121	0.1145:0.0:0.8855:0.0	.	587;40;596	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	E	587;596;587;601	ENSP00000359947:A587E;ENSP00000355010:A596E;ENSP00000359941:A587E;ENSP00000359940:A601E	ENSP00000355010:A596E	A	-	2	0	IGSF1	130240370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.339000	0.59322	2.262000	0.75019	0.597000	0.82753	GCA			0.542	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000058288.1			
ARHGAP4	393	mdanderson.org	37	X	153174574	153174574	+	Silent	SNP	G	G	T	rs202239294		TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chrX:153174574G>T	ENST00000350060.5	-	21	2598	c.2557C>A	c.(2557-2559)Cga>Aga	p.R853R	ARHGAP4_ENST00000370016.1_Silent_p.R832R|ARHGAP4_ENST00000370028.3_Silent_p.R893R|ARHGAP4_ENST00000467421.1_5'Flank|ARHGAP4_ENST00000393721.1_Silent_p.R675R|ARHGAP4_ENST00000537206.1_Silent_p.R830R	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	853					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AAGCAGCGTCGTCTGTGTCCA	0.632																																					p.R893R													.	.			0			c.C2677A												123.0	86.0	99.0					X																	153174574		2203	4300	6503	SO:0001819	synonymous_variant	393	exon22			AGCGTCGTCTGTG	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.2557C>A	X.37:g.153174574G>T			Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	55	0.05	3	NM_001164741	70	0.00	0	Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	CCDS14736.1																																																																																					0.632	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000061119.1		NM_001666	
DNAH11	8701	mdanderson.org	37	7	21745108	21745108	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:21745108C>T	ENST00000409508.3	+	39	6530	c.6499C>T	c.(6499-6501)Cgg>Tgg	p.R2167W	DNAH11_ENST00000328843.6_Missense_Mutation_p.R2174W	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2174	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTTGGCTGTGCGGCACTCGGT	0.423									Kartagener syndrome																												.													DNAH11,NS,carcinoma,-1,1	DNAH11	-1	1	0			.												90.0	93.0	92.0					7																	21745108		1937	4152	6089	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCTGTGCGGCACT	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6499C>T	7.37:g.21745108C>T	ENSP00000475939:p.Arg2167Trp		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	130	0.04	5	.	0		0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	16.00	2.999389	0.54147	.	.	ENSG00000105877	ENST00000328843	T	0.44881	0.91	5.62	2.76	0.32466	ATPase, AAA+ type, core (1);	0.058338	0.64402	D	0.000004	T	0.31796	0.0808	.	.	.	0.52501	D	0.999954	B	0.25390	0.125	B	0.18871	0.023	T	0.11299	-1.0593	9	0.87932	D	0	.	7.7447	0.28862	0.2331:0.6396:0.0:0.1273	.	2174	Q96DT5	DYH11_HUMAN	W	2174	ENSP00000330671:R2174W	ENSP00000330671:R2174W	R	+	1	2	DNAH11	21711633	0.064000	0.20934	0.186000	0.23195	0.718000	0.41266	0.444000	0.21661	0.370000	0.24538	-0.143000	0.13931	CGG			0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000326582.6		NM_003777	
DNAH11	8701	mdanderson.org	37	7	21924014	21924014	+	Missense_Mutation	SNP	A	A	T	rs6461613	byFrequency	TCGA-2G-AAFI-01A-21D-A42Y-10	TCGA-2G-AAFI-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9480516-f59c-493a-af4e-826e35d4967f	78f10599-cf46-4998-be34-08693afd06f2	g.chr7:21924014A>T	ENST00000409508.3	+	76	12524	c.12493A>T	c.(12493-12495)Atg>Ttg	p.M4165L	DNAH11_ENST00000328843.6_Missense_Mutation_p.M4172L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4172					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGAAGAATTCATGAATCCATC	0.348									Kartagener syndrome																												.													.	.			0			.												74.0	72.0	73.0					7																	21924014		1993	4217	6210	SO:0001583	missense	8701	.	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GAATTCATGAATC	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12493A>T	7.37:g.21924014A>T	ENSP00000475939:p.Met4165Leu		Somatic	114	0	0		WXS	Illumina HiSeq	Phase_I	95	0.02	2	.	0		0	Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	A	11.07	1.529461	0.27387	.	.	ENSG00000105877	ENST00000328843	T	0.07688	3.17	5.7	5.7	0.88788	Dynein heavy chain (1);	0.036259	0.85682	D	0.000000	T	0.06826	0.0174	.	.	.	0.21184	P	0.999764571	P	0.35684	0.515	B	0.38225	0.268	T	0.38178	-0.9673	8	0.12766	T	0.61	.	12.3835	0.55320	0.8597:0.1403:0.0:0.0	.	4172	Q96DT5	DYH11_HUMAN	L	4172	ENSP00000330671:M4172L	ENSP00000330671:M4172L	M	+	1	0	DNAH11	21890539	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.699000	0.54778	2.161000	0.67846	0.528000	0.53228	ATG			0.348	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000326582.6		NM_003777	
