#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
ARMC3	219681	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	23292319	23292319	+	Silent	SNP	C	C	T	rs370847654		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409983.3_Silent_p.N569N|ARMC3_ENST00000409049.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	569						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323																																																0								C		0,4406		0,0,2203	131.0	135.0	134.0		1707	2.0	0.3	10		134	1,8599		0,1,4299	no	coding-synonymous	ARMC3	NM_173081.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		569/873	23292319	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1707C>T	10.37:g.23292319C>T			A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	37	CCDS7142.1																																																																																				0.323	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		59	73	59	73
ATG16L2	89849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	72528829	72528829	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:72528829G>C	ENST00000321297.5	+	3	385	c.247G>C	c.(247-249)Gtc>Ctc	p.V83L	ATG16L2_ENST00000534905.1_Missense_Mutation_p.V83L	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	83					autophagy (GO:0006914)|negative stranded viral RNA replication (GO:0039689)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CTCAGACCAAGTCCCATCACT	0.587																																																0													90.0	73.0	79.0					11																	72528829		2200	4293	6493	SO:0001583	missense	89849			AK024423	CCDS31634.1	11q13.4	2014-02-12	2012-06-06		ENSG00000168010	ENSG00000168010		"""WD repeat domain containing"""	25464	protein-coding gene	gene with protein product			"""ATG16 autophagy related 16-like 2 (S. cerevisiae)"""			11214971	Standard	XM_005274378		Approved	FLJ00012, WDR80, ATG16B	uc001otd.3	Q8NAA4	OTTHUMG00000167961	ENST00000321297.5:c.247G>C	11.37:g.72528829G>C	ENSP00000326340:p.Val83Leu		A5PL30|B2RPK5|Q658V4|Q6PID3|Q8NBG0	Missense_Mutation	SNP	ENST00000321297.5	37	CCDS31634.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.005|3.005	-0.205145|-0.205145	0.06180|0.06180	.|.	.|.	ENSG00000168010|ENSG00000168010	ENST00000540567|ENST00000321297;ENST00000534905	.|T	.|0.52754	.|0.65	3.56|3.56	1.59|1.59	0.23543|0.23543	.|Autophagy-related protein 16 (1);	.|.	.|.	.|.	.|.	T|T	0.24198|0.24198	0.0586|0.0586	N|N	0.21097|0.21097	0.63|0.63	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.26445	.|0.068;0.106;0.005;0.149	.|B;B;B;B	.|0.22880	.|0.039;0.042;0.007;0.039	T|T	0.26608|0.26608	-1.0098|-1.0098	5|9	.|0.02654	.|T	.|1	.|.	4.8072|4.8072	0.13326|0.13326	0.1232:0.221:0.6558:0.0|0.1232:0.221:0.6558:0.0	.|.	.|83;83;83;82	.|B4E090;F5GWZ9;Q8NAA4;Q2VPK0	.|.;.;A16L2_HUMAN;.	N|L	87|83	.|ENSP00000326340:V83L	.|ENSP00000326340:V83L	K|V	+|+	3|1	2|0	ATG16L2|ATG16L2	72206477|72206477	0.001000|0.001000	0.12720|0.12720	0.008000|0.008000	0.14137|0.14137	0.443000|0.443000	0.32047|0.32047	0.733000|0.733000	0.26087|0.26087	0.468000|0.468000	0.27243|0.27243	0.491000|0.491000	0.48974|0.48974	AAG|GTC		0.587	ATG16L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397305.1	NM_033388		15	40	15	40
BCL9L	283149	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	118772576	118772576	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:118772576T>C	ENST00000334801.3	-	6	2840	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	626					canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGGCATTCATGGGCACCTCC	0.622																																																0													44.0	44.0	44.0					11																	118772576		2200	4295	6495	SO:0001583	missense	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.1876A>G	11.37:g.118772576T>C	ENSP00000335320:p.Met626Val		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	ENST00000334801.3	37	CCDS8403.1	.	.	.	.	.	.	.	.	.	.	T	8.455	0.854003	0.17106	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000392849;ENST00000431085	T	0.63580	-0.05	4.73	4.73	0.59995	.	0.000000	0.53938	D	0.000060	T	0.43100	0.1232	N	0.16478	0.41	0.34847	D	0.741303	B;B	0.16396	0.017;0.01	B;B	0.12837	0.008;0.003	T	0.51092	-0.8749	10	0.38643	T	0.18	-11.2567	8.7234	0.34454	0.0:0.0865:0.0:0.9135	.	621;626	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	V	626;589;626;626	ENSP00000335320:M626V	ENSP00000335320:M626V	M	-	1	0	BCL9L	118277786	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.089000	0.50183	1.994000	0.58287	0.260000	0.18958	ATG		0.622	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557		14	29	14	29
WNK1	65125	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	994382	994382	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr12:994382C>T	ENST00000315939.6	+	19	5055	c.4412C>T	c.(4411-4413)cCt>cTt	p.P1471L	WNK1_ENST00000537687.1_Missense_Mutation_p.P1731L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1224L|WNK1_ENST00000530271.2_Missense_Mutation_p.P1969L|WNK1_ENST00000340908.4_Missense_Mutation_p.P1064L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1471					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCCTAAGCCTCCAGCTGTA	0.507																																					Colon(19;451 567 6672 12618 28860)											0													96.0	93.0	94.0					12																	994382		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4412C>T	12.37:g.994382C>T	ENSP00000313059:p.Pro1471Leu		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347982	0.24426	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.70516	-0.49;-0.42;-0.44;-0.43;0.77	5.4	4.51	0.55191	.	0.293891	0.30028	N	0.010598	T	0.57431	0.2053	N	0.19112	0.55	0.45502	D	0.998463	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.002;0.001	T	0.55566	-0.8121	10	0.59425	D	0.04	-4.9131	14.4921	0.67657	0.0:0.9289:0.0:0.0711	.	1224;1224;1471	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	L	1224;1471;1731;644;1969;1064	ENSP00000441972:P1224L;ENSP00000313059:P1471L;ENSP00000444465:P1731L;ENSP00000433548:P1969L;ENSP00000341292:P1064L	ENSP00000252477:P644L	P	+	2	0	WNK1	864643	0.031000	0.19500	1.000000	0.80357	0.249000	0.25844	1.816000	0.38992	1.413000	0.46997	0.655000	0.94253	CCT		0.507	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		29	86	29	86
PSMC6	5706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	53175072	53175072	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:53175072A>G	ENST00000606149.1	+	2	147	c.131A>G	c.(130-132)gAa>gGa	p.E44G	PSMC6_ENST00000445930.2_Missense_Mutation_p.E58G	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAAAAGTCTGAAAATGATCTG	0.353																																																0													117.0	116.0	116.0					14																	53175072		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.131A>G	14.37:g.53175072A>G	ENSP00000475721:p.Glu44Gly		B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.660435|4.660435	0.88154|0.88154	.|.	.|.	ENSG00000100519|ENSG00000100519	ENST00000445930|ENST00000556813	D|.	0.94457|.	-3.43|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.86940|.	0.6054|.	H|H	0.95539|0.95539	3.685|3.685	0.80722|0.80722	D|D	1|1	P|.	0.52692|.	0.955|.	P|.	0.51453|.	0.67|.	D|.	0.90977|.	0.4824|.	10|.	0.72032|.	D|.	0.01|.	.|.	15.3064|15.3064	0.73995|0.73995	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	44|.	P62333|.	PRS10_HUMAN|.	G|W	58|43	ENSP00000401802:E58G|.	ENSP00000401802:E58G|.	E|X	+|+	2|3	0|0	PSMC6|PSMC6	52244822|52244822	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.952000|0.952000	0.60782|0.60782	8.870000|8.870000	0.92336|0.92336	2.078000|2.078000	0.62432|0.62432	0.459000|0.459000	0.35465|0.35465	GAA|TGA		0.353	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806		25	21	25	21
COPS2	9318	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	49447771	49447771	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:49447771G>C	ENST00000388901.5	-	1	78	c.5C>G	c.(4-6)tCt>tGt	p.S2C	COPS2_ENST00000299259.6_Missense_Mutation_p.S2C|COPS2_ENST00000542928.1_Missense_Mutation_p.S2C|GALK2_ENST00000327171.3_5'Flank	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	2					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCCATGTCAGACATCTTGGC	0.557																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)											0													127.0	118.0	121.0					15																	49447771		2196	4295	6491	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.5C>G	15.37:g.49447771G>C	ENSP00000373553:p.Ser2Cys		O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	ENST00000388901.5	37	CCDS32235.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867087	0.72065	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.71476	0.3344	M	0.87827	2.91	0.30363	N	0.783636	P;P;P	0.46578	0.88;0.88;0.88	P;P;P	0.52481	0.7;0.7;0.7	T	0.75714	-0.3221	9	0.87932	D	0	-5.0116	18.553	0.91072	0.0:0.0:1.0:0.0	.	2;3;2	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	C	2	.	ENSP00000299259:S2C	S	-	2	0	COPS2	47235063	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.884000	0.87274	2.603000	0.88011	0.655000	0.94253	TCT		0.557	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417840.1	NM_004236		49	56	49	56
PDE8A	5151	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	85610300	85610300	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:85610300G>A	ENST00000310298.4	+	4	551	c.299G>A	c.(298-300)tGt>tAt	p.C100Y	PDE8A_ENST00000394553.1_Missense_Mutation_p.C100Y|PDE8A_ENST00000557957.1_Missense_Mutation_p.C28Y|PDE8A_ENST00000339708.5_Missense_Mutation_p.C100Y|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	100					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	TGCAGGGCATGTGAAAAAGCA	0.383																																																0													154.0	136.0	142.0					15																	85610300		2203	4299	6502	SO:0001583	missense	5151			AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.299G>A	15.37:g.85610300G>A	ENSP00000311453:p.Cys100Tyr		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138429	0.77775	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.41758	0.99;0.99;0.99	4.79	4.79	0.61399	Signal transduction response regulator, receiver domain (1);	0.047145	0.85682	D	0.000000	T	0.65688	0.2715	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	T	0.69932	-0.5011	10	0.87932	D	0	.	15.7307	0.77800	0.0:0.0:1.0:0.0	.	100;100	O60658-2;O60658	.;PDE8A_HUMAN	Y	100	ENSP00000311453:C100Y;ENSP00000378056:C100Y;ENSP00000340679:C100Y	ENSP00000311453:C100Y	C	+	2	0	PDE8A	83411304	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	8.828000	0.92047	2.642000	0.89623	0.655000	0.94253	TGT		0.383	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		45	41	45	41
DHX38	9785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	72132924	72132924	+	Missense_Mutation	SNP	C	C	T	rs148934675		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72132924C>T	ENST00000268482.3	+	6	1372	c.863C>T	c.(862-864)cCg>cTg	p.P288L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	288					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGGTCCACCCCGCGTCTGTCC	0.617																																					Melanoma(97;711 1442 7855 13832 28836)											0								C	LEU/PRO	0,4396		0,0,2198	41.0	41.0	41.0		863	4.9	0.9	16	dbSNP_134	41	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DHX38	NM_014003.3	98	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	288/1228	72132924	1,12995	2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.863C>T	16.37:g.72132924C>T	ENSP00000268482:p.Pro288Leu		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.661407	0.47572	0.0	1.16E-4	ENSG00000140829	ENST00000268482	T	0.02974	4.09	4.87	4.87	0.63330	.	0.058987	0.64402	D	0.000001	T	0.06096	0.0158	M	0.66297	2.02	0.80722	D	1	B	0.19817	0.039	B	0.09377	0.004	T	0.21075	-1.0256	10	0.48119	T	0.1	.	18.3634	0.90383	0.0:1.0:0.0:0.0	.	288	Q92620	PRP16_HUMAN	L	288	ENSP00000268482:P288L	ENSP00000268482:P288L	P	+	2	0	DHX38	70690425	1.000000	0.71417	0.948000	0.38648	0.061000	0.15899	7.304000	0.78882	2.419000	0.82065	0.563000	0.77884	CCG		0.617	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269004.3	NM_014003		20	36	20	36
ZFHX3	463	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	72993684	72993684	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72993684C>A	ENST00000268489.5	-	2	1033	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	121					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTCCTCGTCCCCCTCCTCA	0.687																																																0													31.0	32.0	32.0					16																	72993684		2198	4300	6498	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.361G>T	16.37:g.72993684C>A	ENSP00000268489:p.Asp121Tyr		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462181	0.43736	.	.	ENSG00000140836	ENST00000268489	T	0.73575	-0.76	5.11	5.11	0.69529	.	0.243373	0.28021	N	0.016919	T	0.73869	0.3642	N	0.08118	0	0.80722	D	1	D	0.76494	0.999	D	0.67103	0.949	T	0.78760	-0.2078	10	0.45353	T	0.12	.	18.5506	0.91063	0.0:1.0:0.0:0.0	.	121	Q15911	ZFHX3_HUMAN	Y	121	ENSP00000268489:D121Y	ENSP00000268489:D121Y	D	-	1	0	ZFHX3	71551185	1.000000	0.71417	0.993000	0.49108	0.725000	0.41563	6.028000	0.70889	2.379000	0.81126	0.462000	0.41574	GAC		0.687	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		23	117	23	117
PLCG2	5336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	81953235	81953235	+	Missense_Mutation	SNP	C	C	A	rs199516791		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:81953235C>A	ENST00000359376.3	+	20	2415	c.2201C>A	c.(2200-2202)cCc>cAc	p.P734H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	734	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCGCTACCCCGTGACCCCC	0.517																																																0													64.0	69.0	67.0					16																	81953235		1946	4125	6071	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2201C>A	16.37:g.81953235C>A	ENSP00000352336:p.Pro734His		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.819999	0.90873	.	.	ENSG00000197943	ENST00000359376	D	0.95069	-3.6	5.16	5.16	0.70880	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.154508	0.64402	D	0.000015	D	0.98492	0.9497	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.968	D	0.99824	1.1049	10	0.87932	D	0	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	601;734	B4E3H3;P16885	.;PLCG2_HUMAN	H	734	ENSP00000352336:P734H	ENSP00000352336:P734H	P	+	2	0	PLCG2	80510736	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	7.665000	0.83852	2.392000	0.81423	0.655000	0.94253	CCC		0.517	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1			28	72	28	72
METTL16	79066	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	2324130	2324130	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:2324130G>A	ENST00000263092.6	-	9	1084	c.957C>T	c.(955-957)tcC>tcT	p.S319S	METTL16_ENST00000538844.1_Silent_p.S101S|METTL16_ENST00000571669.2_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	319							methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						CCTTCATCACGGACGCCAGCA	0.453																																																0													251.0	235.0	240.0					17																	2324130		1924	4146	6070	SO:0001819	synonymous_variant	79066			AK027410	CCDS42232.1	17p13.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000127804	ENSG00000127804			28484	protein-coding gene	gene with protein product			"""methyltransferase 10 domain containing"""	METT10D		18021804	Standard	NM_024086		Approved	MGC3329	uc002fut.3	Q86W50		ENST00000263092.6:c.957C>T	17.37:g.2324130G>A			D3DTI8|Q86TE5|Q96T16|Q9BVG7	Silent	SNP	ENST00000263092.6	37	CCDS42232.1																																																																																				0.453	METTL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437653.2	NM_024086		104	237	104	237
ALDH4A1	8659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	19209803	19209803	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209803G>A	ENST00000375341.3	-	6	830	c.573C>T	c.(571-573)agC>agT	p.S191S	ALDH4A1_ENST00000538309.1_Silent_p.S131S|ALDH4A1_ENST00000290597.5_Silent_p.S191S|ALDH4A1_ENST00000538839.1_Silent_p.S191S|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	191				PPS -> LPY (in Ref. 10; AA sequence). {ECO:0000305}.	4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCTGTTGGTGCTCGGGGGCA	0.647																																																0													47.0	41.0	43.0					1																	19209803		2203	4300	6503	SO:0001819	synonymous_variant	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.573C>T	1.37:g.19209803G>A			A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	ENST00000375341.3	37	CCDS188.1																																																																																				0.647	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			21	97	21	97
ALDH4A1	8659	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	19209838	19209838	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209838G>C	ENST00000375341.3	-	6	795	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.L120V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.L180V|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.L180V|ALDH4A1_ENST00000454547.1_5'UTR|MIR4695_ENST00000577305.1_RNA|RP13-279N23.2_ENST00000494072.3_3'UTR	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	180					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCCCTCCAGCTCCACCGCA	0.642																																																0													54.0	45.0	48.0					1																	19209838		2203	4300	6503	SO:0001583	missense	8659			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.538C>G	1.37:g.19209838G>C	ENSP00000364490:p.Leu180Val		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	ENST00000375341.3	37	CCDS188.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.576842	0.45902	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309;ENST00000375335;ENST00000454547;ENST00000375334;ENST00000432718	T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22	5.31	4.39	0.52855	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.146541	0.47093	D	0.000249	T	0.77738	0.4175	M	0.76328	2.33	0.80722	D	1	P	0.36354	0.549	B	0.39119	0.291	T	0.76361	-0.2987	10	0.37606	T	0.19	-22.2986	12.5994	0.56489	0.0813:0.0:0.9187:0.0	.	180	P30038	AL4A1_HUMAN	V	180;180;180;120;164;78;120;164	ENSP00000290597:L180V;ENSP00000364490:L180V;ENSP00000446071:L180V;ENSP00000442988:L120V;ENSP00000393209:L164V	ENSP00000290597:L180V	L	-	1	2	ALDH4A1	19082425	1.000000	0.71417	1.000000	0.80357	0.514000	0.34195	7.272000	0.78516	1.236000	0.43740	0.491000	0.48974	CTG		0.642	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006954.1			24	69	24	69
TMEM39B	55116	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	32542835	32542835	+	Missense_Mutation	SNP	C	C	T	rs372163088		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:32542835C>T	ENST00000336294.5	+	5	652	c.506C>T	c.(505-507)aCg>aTg	p.T169M	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000427288.1_Missense_Mutation_p.T54M|TMEM39B_ENST00000456834.2_Intron	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	169						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCGTTCTCACGGCAACAGGC	0.592																																																0								C	MET/THR	0,4406		0,0,2203	197.0	158.0	171.0		506	5.1	1.0	1		171	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM39B	NM_018056.2	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	169/493	32542835	1,13005	2203	4300	6503	SO:0001583	missense	55116			AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.506C>T	1.37:g.32542835C>T	ENSP00000338165:p.Thr169Met		B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Missense_Mutation	SNP	ENST00000336294.5	37	CCDS351.2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317026	0.81469	0.0	1.16E-4	ENSG00000121775	ENST00000336294;ENST00000373633;ENST00000438825;ENST00000427288	.	.	.	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	0.989;1.0;0.999	P;D;P	0.91635	0.824;0.999;0.833	T	0.78231	-0.2284	9	0.34782	T	0.22	-13.6567	18.4865	0.90831	0.0:1.0:0.0:0.0	.	169;54;42	Q9GZU3;B4DTN8;Q9NW51	TM39B_HUMAN;.;.	M	169;141;141;54	.	ENSP00000338165:T169M	T	+	2	0	TMEM39B	32315422	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.716000	0.68437	2.535000	0.85469	0.498000	0.49722	ACG		0.592	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		19	187	19	187
TOR1AIP1	26092	hgsc.bcm.edu;ucsc.edu	37	1	179876983	179876983	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:179876983G>C	ENST00000606911.2	+	7	1013	c.822G>C	c.(820-822)aaG>aaC	p.K274N	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.K153N|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.K275N|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.K275N			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	274					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CTCATGATAAGCAACCTTCAG	0.328																																																0													123.0	114.0	117.0					1																	179876983		2203	4300	6503	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.822G>C	1.37:g.179876983G>C	ENSP00000476687:p.Lys274Asn		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	g|g|g	5.017|5.017|5.017	0.188760|0.188760|0.188760	0.09547|0.09547|0.09547	.|.|.	.|.|.	ENSG00000143337|ENSG00000143337|ENSG00000143337	ENST00000527391|ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319|ENST00000447964	.|T;T;T|.	.|0.23348|.	.|1.91;1.91;1.91|.	4.85|4.85|4.85	-0.582|-0.582|-0.582	0.11709|0.11709|0.11709	.|.|.	.|1.237240|.	.|0.05718|.	.|N|.	.|0.597247|.	T|T|T	0.15565|0.15565|0.15565	0.0375|0.0375|0.0375	N|N|N	0.13043|0.13043|0.13043	0.29|0.29|0.29	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|B;B|.	.|0.11235|.	.|0.001;0.004|.	.|B;B|.	.|0.12156|.	.|0.003;0.007|.	T|T|T	0.21449|0.21449|0.21449	-1.0245|-1.0245|-1.0245	5|9|5	.|.|.	.|.|.	.|.|.	-2.0318|-2.0318|-2.0318	0.906|0.906|0.906	0.01284|0.01284|0.01284	0.2689:0.1546:0.4065:0.17|0.2689:0.1546:0.4065:0.17|0.2689:0.1546:0.4065:0.17	.|.|.	.|274;275|.	.|Q5JTV8;E9PKD1|.	.|TOIP1_HUMAN;.|.	P|N|T	151|275;274;275;274|28	.|ENSP00000435365:K275N;ENSP00000271583:K275N;ENSP00000393292:K274N|.	.|.|.	A|K|S	+|+|+	1|3|2	0|2|0	TOR1AIP1|TOR1AIP1|TOR1AIP1	178143606|178143606|178143606	0.997000|0.997000|0.997000	0.39634|0.39634|0.39634	0.008000|0.008000|0.008000	0.14137|0.14137|0.14137	0.056000|0.056000|0.056000	0.15407|0.15407|0.15407	1.046000|1.046000|1.046000	0.30354|0.30354|0.30354	-0.261000|-0.261000|-0.261000	0.09405|0.09405|0.09405	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GCA|AAG|AGC		0.328	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		4	38	4	38
BRINP3	339479	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	190067492	190067492	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:190067492C>T	ENST00000367462.3	-	8	2188	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	BRINP3_ENST00000534846.1_Missense_Mutation_p.D551N	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	653					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CGGGAAGGGTCAATAAACTCC	0.428																																																0													125.0	131.0	129.0					1																	190067492		2203	4300	6503	SO:0001583	missense	339479			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1957G>A	1.37:g.190067492C>T	ENSP00000356432:p.Asp653Asn		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430754	0.83776	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.25414	2.06;1.8	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.50463	0.1617	M	0.72894	2.215	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.66351	0.943;0.878	T	0.50898	-0.8773	10	0.87932	D	0	.	17.2293	0.86980	0.0:1.0:0.0:0.0	.	551;653	B7Z260;Q76B58	.;FAM5C_HUMAN	N	653;551	ENSP00000356432:D653N;ENSP00000438022:D551N	ENSP00000356432:D653N	D	-	1	0	FAM5C	188334115	1.000000	0.71417	0.995000	0.50966	0.868000	0.49771	7.734000	0.84928	2.669000	0.90835	0.650000	0.86243	GAC		0.428	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		38	59	38	59
HSPA13	6782	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	15748040	15748040	+	Silent	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:15748040G>A	ENST00000285667.3	-	4	748	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA13_ENST00000478035.1_5'Flank|HSPA13_ENST00000544452.1_Silent_p.G19G	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	227						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGTTCCTCCGCCCAAGTCTA	0.483																																																0													122.0	116.0	118.0					21																	15748040		2203	4300	6503	SO:0001819	synonymous_variant	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.681C>T	21.37:g.15748040G>A			B2R616|Q8NE40	Silent	SNP	ENST00000285667.3	37	CCDS13567.1																																																																																				0.483	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157815.1			37	116	37	116
BCR	613	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	23631729	23631729	+	Silent	SNP	C	C	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr22:23631729C>G	ENST00000305877.8	+	13	3379	c.2628C>G	c.(2626-2628)tcC>tcG	p.S876S	BCR_ENST00000359540.3_Silent_p.S876S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	876	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTGACATCCGTGGAGCTGC	0.572			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0													114.0	96.0	102.0					22																	23631729		2203	4300	6503	SO:0001819	synonymous_variant	613				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.2628C>G	22.37:g.23631729C>G			P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	37	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	C	2.175	-0.389027	0.04932	.	.	ENSG00000186716	ENST00000290956	.	.	.	4.77	-9.53	0.00575	.	.	.	.	.	T	0.47563	0.1452	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60084	-0.7332	5	0.87932	D	0	.	0.9649	0.01403	0.2005:0.2145:0.1709:0.414	.	.	.	.	G	442	.	ENSP00000290956:R442G	R	+	1	0	BCR	21961729	0.000000	0.05858	0.085000	0.20634	0.316000	0.28119	-5.543000	0.00114	-2.481000	0.00523	-2.049000	0.00408	CGT		0.572	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		24	36	24	36
LRP1B	53353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	141274478	141274478	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:141274478C>G	ENST00000389484.3	-	50	9100	c.8129G>C	c.(8128-8130)gGa>gCa	p.G2710A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2710	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATCACGTCCATCCTCACA	0.328										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)											0													161.0	148.0	152.0					2																	141274478		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8129G>C	2.37:g.141274478C>G	ENSP00000374135:p.Gly2710Ala		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631741	0.87660	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.59502	0.26	4.92	4.92	0.64577	.	0.000000	0.64402	U	0.000003	T	0.73289	0.3568	M	0.64404	1.975	0.58432	D	0.999998	D	0.65815	0.995	D	0.67103	0.949	T	0.75736	-0.3213	10	0.56958	D	0.05	.	18.12	0.89568	0.0:1.0:0.0:0.0	.	2710	Q9NZR2	LRP1B_HUMAN	A	2710;2648	ENSP00000374135:G2710A	ENSP00000374135:G2710A	G	-	2	0	LRP1B	140990948	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.768000	0.85345	2.237000	0.73441	0.563000	0.77884	GGA		0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		35	97	35	97
DNAH7	56171	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	196877622	196877622	+	Missense_Mutation	SNP	C	C	T	rs372305897		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:196877622C>T	ENST00000312428.6	-	10	978	c.878G>A	c.(877-879)cGt>cAt	p.R293H	DNAH7_ENST00000410072.1_Missense_Mutation_p.R293H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAACTAAACGTAATTTTCT	0.279																																																0								C	HIS/ARG	1,3595		0,1,1797	60.0	58.0	58.0		878	5.2	1.0	2		58	0,8130		0,0,4065	no	missense	DNAH7	NM_018897.2	29	0,1,5862	TT,TC,CC		0.0,0.0278,0.0085	probably-damaging	293/4025	196877622	1,11725	1798	4065	5863	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.878G>A	2.37:g.196877622C>T	ENSP00000311273:p.Arg293His		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194425	0.78902	2.78E-4	0.0	ENSG00000118997	ENST00000312428;ENST00000410072;ENST00000312446	T;T	0.24908	1.83;2.43	5.22	5.22	0.72569	.	0.000000	0.64402	D	0.000003	T	0.49389	0.1554	M	0.83603	2.65	0.49299	D	0.99977	D	0.89917	1.0	D	0.63192	0.912	T	0.48019	-0.9071	10	0.17369	T	0.5	.	15.7046	0.77569	0.0:1.0:0.0:0.0	.	293	Q8WXX0	DYH7_HUMAN	H	293	ENSP00000311273:R293H;ENSP00000386260:R293H	ENSP00000311273:R293H	R	-	2	0	DNAH7	196585867	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.647000	0.54403	2.437000	0.82529	0.591000	0.81541	CGT		0.279	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		20	26	20	26
CACNA1D	776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	53837571	53837571	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:53837571G>C	ENST00000350061.5	+	44	6068	c.5557G>C	c.(5557-5559)Gag>Cag	p.E1853Q	CACNA1D_ENST00000288139.4_Missense_Mutation_p.E1873Q|CACNA1D_ENST00000544977.1_Missense_Mutation_p.E232Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1829Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1853					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)	GGAATGCTACGAGGATGACAG	0.617																																																0													119.0	123.0	121.0					3																	53837571		2203	4300	6503	SO:0001583	missense	776			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.5557G>C	3.37:g.53837571G>C	ENSP00000288133:p.Glu1853Gln		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.729491	0.48833	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000544977	D;D;D;D	0.96885	-4.14;-4.16;-4.12;-4.15	4.56	4.56	0.56223	.	0.614924	0.13195	N	0.406445	D	0.96864	0.8976	M	0.69823	2.125	0.54753	D	0.999989	P;P;D;D	0.54047	0.553;0.657;0.964;0.958	B;B;P;P	0.53062	0.09;0.092;0.519;0.717	D	0.95509	0.8584	10	0.32370	T	0.25	.	15.8969	0.79341	0.0:0.0:1.0:0.0	.	1829;1546;1853;1873	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	Q	1853;1873;1829;1546;232	ENSP00000288133:E1853Q;ENSP00000288139:E1873Q;ENSP00000409174:E1829Q;ENSP00000418014:E1546Q	ENSP00000288139:E1873Q	E	+	1	0	CACNA1D	53812611	1.000000	0.71417	0.799000	0.32177	0.191000	0.23601	8.712000	0.91403	2.257000	0.74773	0.555000	0.69702	GAG		0.617	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		97	215	97	215
SLITRK3	22865	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	164906713	164906713	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:164906713G>T	ENST00000475390.1	-	2	2349	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P636T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	636					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACTGGTTGGTGCCCCAATA	0.527										HNSCC(40;0.11)																																						0													37.0	40.0	39.0					3																	164906713		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1906C>A	3.37:g.164906713G>T	ENSP00000420091:p.Pro636Thr		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	5.413	0.261293	0.10239	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.53640	0.61;0.61	5.02	4.12	0.48240	.	0.211139	0.24005	N	0.042424	T	0.29716	0.0742	N	0.22421	0.69	0.45852	D	0.998716	B	0.14438	0.01	B	0.08055	0.003	T	0.11966	-1.0566	10	0.05351	T	0.99	-5.3007	13.8577	0.63540	0.0:0.0:0.8459:0.1541	.	636	O94933	SLIK3_HUMAN	T	636	ENSP00000420091:P636T;ENSP00000241274:P636T	ENSP00000241274:P636T	P	-	1	0	SLITRK3	166389407	0.870000	0.30015	0.082000	0.20525	0.066000	0.16364	1.307000	0.33516	1.407000	0.46875	0.655000	0.94253	CCA		0.527	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		11	34	11	34
GABRA1	2554	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	161324195	161324195	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:161324195G>C	ENST00000428797.2	+	11	1493	c.1138G>C	c.(1138-1140)Gcc>Ccc	p.A380P	GABRA1_ENST00000437025.2_Missense_Mutation_p.A380P|GABRA1_ENST00000023897.6_Missense_Mutation_p.A380P|GABRA1_ENST00000444819.1_Missense_Mutation_p.A380P|GABRA1_ENST00000393943.4_Missense_Mutation_p.A380P|GABRA1_ENST00000420560.1_Missense_Mutation_p.A380P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	380					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCCTAATTTGGCCAGGGGCGA	0.458																																																0													102.0	113.0	110.0					5																	161324195		2203	4300	6503	SO:0001583	missense	2554				CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.1138G>C	5.37:g.161324195G>C	ENSP00000393097:p.Ala380Pro		D3DQK6|Q8N629	Missense_Mutation	SNP	ENST00000428797.2	37	CCDS4357.1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527934	0.44969	.	.	ENSG00000022355	ENST00000023897;ENST00000428797;ENST00000393943;ENST00000437025;ENST00000420560;ENST00000444819	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.32	5.32	0.75619	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.260840	0.38959	N	0.001510	T	0.67998	0.2953	N	0.16743	0.435	0.58432	D	0.999999	B	0.14438	0.01	B	0.22152	0.038	T	0.62077	-0.6930	10	0.20519	T	0.43	.	14.9112	0.70758	0.0:0.143:0.857:0.0	.	380	P14867	GBRA1_HUMAN	P	380	ENSP00000023897:A380P;ENSP00000393097:A380P;ENSP00000377517:A380P;ENSP00000415441:A380P;ENSP00000408041:A380P;ENSP00000414232:A380P	ENSP00000023897:A380P	A	+	1	0	GABRA1	161256773	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.229000	0.65316	2.642000	0.89623	0.563000	0.77884	GCC		0.458	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		44	138	44	138
EGFR	1956	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	55211008	55211008	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:55211008A>T	ENST00000275493.2	+	3	428	c.251A>T	c.(250-252)gAg>gTg	p.E84V	EGFR_ENST00000454757.2_Missense_Mutation_p.E31V|EGFR_ENST00000442591.1_Missense_Mutation_p.E84V|EGFR_ENST00000344576.2_Missense_Mutation_p.E84V|EGFR_ENST00000420316.2_Missense_Mutation_p.E84V|EGFR_ENST00000342916.3_Missense_Mutation_p.E84V|EGFR_ENST00000455089.1_Missense_Mutation_p.E84V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	84			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	ACCATCCAGGAGGTGGCTGGT	0.448		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													97.0	95.0	95.0					7																	55211008		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.251A>T	7.37:g.55211008A>T	ENSP00000275493:p.Glu84Val		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.958846	0.74016	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	D;D;D;D;D;D;D;D	0.84944	-1.6;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92;-1.92	5.31	4.12	0.48240	EGF receptor, L domain (1);	0.000000	0.85682	D	0.000000	D	0.91321	0.7263	M	0.78223	2.4	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	D	0.91400	0.5142	10	0.87932	D	0	.	11.4191	0.49971	0.8485:0.1515:0.0:0.0	.	84;84;84;84;84	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	V	84;84;84;84;84;84;31;31	ENSP00000415559:E84V;ENSP00000342376:E84V;ENSP00000345973:E84V;ENSP00000413843:E84V;ENSP00000275493:E84V;ENSP00000410031:E84V;ENSP00000413354:E31V;ENSP00000395243:E31V	ENSP00000275493:E84V	E	+	2	0	EGFR	55178502	1.000000	0.71417	0.797000	0.32132	0.788000	0.44548	9.261000	0.95576	0.930000	0.37217	0.533000	0.62120	GAG		0.448	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		32	90	32	90
SEMA3E	9723	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	83119551	83119551	+	Missense_Mutation	SNP	G	G	T	rs370543242	byFrequency	TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:83119551G>T	ENST00000307792.3	-	2	622	c.155C>A	c.(154-156)cCt>cAt	p.P52H	SEMA3E_ENST00000427262.1_5'UTR	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATCCAAAAGGGCTATGAAA	0.413																																																0													76.0	72.0	73.0					7																	83119551		2203	4300	6503	SO:0001583	missense	9723			AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.155C>A	7.37:g.83119551G>T	ENSP00000303212:p.Pro52His		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413302	0.25465	.	.	ENSG00000170381	ENST00000307792;ENST00000541514	T	0.21932	1.98	5.82	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.757705	0.11197	U	0.589237	T	0.26048	0.0635	L	0.50919	1.6	0.80722	D	1	B	0.06786	0.001	B	0.11329	0.006	T	0.02805	-1.1108	10	0.46703	T	0.11	.	16.9497	0.86242	0.0:0.1279:0.8721:0.0	.	52	O15041	SEM3E_HUMAN	H	52	ENSP00000303212:P52H	ENSP00000303212:P52H	P	-	2	0	SEMA3E	82957487	1.000000	0.71417	0.904000	0.35570	0.423000	0.31445	3.355000	0.52262	1.454000	0.47793	0.585000	0.79938	CCT		0.413	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		20	59	20	59
RNF19A	25897	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	101287238	101287238	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:101287238G>A	ENST00000519449.1	-	4	1142	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R276C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	276					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GTTCTCAAACGTAAGCTCTGG	0.418																																																0													91.0	90.0	90.0					8																	101287238		2203	4300	6503	SO:0001583	missense	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.826C>T	8.37:g.101287238G>A	ENSP00000428968:p.Arg276Cys		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821049	0.71028	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85411	-1.98;-1.98	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.78880	0.4353	N	0.22421	0.69	0.80722	D	1	B	0.26081	0.141	B	0.20184	0.028	T	0.75616	-0.3256	10	0.72032	D	0.01	.	19.2824	0.94057	0.0:0.0:1.0:0.0	.	276	Q9NV58	RN19A_HUMAN	C	276	ENSP00000428968:R276C;ENSP00000342667:R276C	ENSP00000342667:R276C	R	-	1	0	RNF19A	101356414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.691000	0.84191	2.880000	0.98712	0.650000	0.86243	CGT		0.418	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		27	77	27	77
SLC45A4	57210	hgsc.bcm.edu;broad.mit.edu	37	8	142231748	142231748	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:142231748G>A	ENST00000024061.3	-	2	512	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC45A4_ENST00000433583.2_Missense_Mutation_p.R62W|SLC45A4_ENST00000517878.1_Missense_Mutation_p.R120W|SLC45A4_ENST00000519067.1_Missense_Mutation_p.R69W	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGAAGGGCCGCCGGCGGCCC	0.617																																																0													73.0	79.0	77.0					8																	142231748		2203	4300	6503	SO:0001583	missense	57210			AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.205C>T	8.37:g.142231748G>A	ENSP00000024061:p.Arg69Trp		Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483830	0.84854	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000519986	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	M	0.92367	3.3	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.99232	1.0882	10	0.87932	D	0	-44.7567	19.3718	0.94490	0.0:0.0:1.0:0.0	.	120;69;69	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	W	69;120;62;69;51	ENSP00000429059:R69W;ENSP00000428137:R120W;ENSP00000400799:R62W;ENSP00000024061:R69W;ENSP00000429974:R51W	ENSP00000024061:R69W	R	-	1	2	SLC45A4	142300930	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.998000	0.63927	2.585000	0.87301	0.407000	0.27541	CGG		0.617	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		6	88	6	88
EPPK1	83481	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	144945911	144945911	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:144945911C>T	ENST00000525985.1	-	2	1582	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q				P58107	EPIPL_HUMAN	epiplakin 1	504						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGGCCCCGGAACTTCCC	0.677																																																0																																										SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1511G>A	8.37:g.144945911C>T	ENSP00000436337:p.Arg504Gln		Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497491	0.04291	.	.	ENSG00000227184	ENST00000525985	T	0.64438	-0.1	5.12	-0.124	0.13523	.	.	.	.	.	T	0.28234	0.0697	N	0.01640	-0.785	0.20873	N	0.999838	B	0.14012	0.009	B	0.01281	0.0	T	0.23511	-1.0186	9	0.09590	T	0.72	.	9.1438	0.36919	0.0:0.265:0.0:0.735	.	504	E9PPU0	.	Q	504	ENSP00000436337:R504Q	ENSP00000436337:R504Q	R	-	2	0	EPPK1	145017899	0.507000	0.26146	0.266000	0.24541	0.003000	0.03518	0.069000	0.14552	-0.135000	0.11495	-1.119000	0.02030	CGG		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		8	17	8	17
APBA1	320	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	72131516	72131516	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:72131516G>T	ENST00000265381.4	-	2	833	c.611C>A	c.(610-612)gCg>gAg	p.A204E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	204					axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTCGGGCGCGTCCCCTAT	0.721																																																0													22.0	22.0	22.0					9																	72131516		2199	4296	6495	SO:0001583	missense	320			AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.611C>A	9.37:g.72131516G>T	ENSP00000265381:p.Ala204Glu		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	12.85	2.060338	0.36373	.	.	ENSG00000107282	ENST00000265381	T	0.04758	3.56	5.26	4.37	0.52481	.	0.192207	0.45867	D	0.000324	T	0.03305	0.0096	N	0.14661	0.345	0.37112	D	0.900385	B	0.23650	0.089	B	0.25759	0.063	T	0.30563	-0.9974	10	0.07030	T	0.85	.	14.2349	0.65919	0.0723:0.0:0.9277:0.0	.	204	Q02410	APBA1_HUMAN	E	204	ENSP00000265381:A204E	ENSP00000265381:A204E	A	-	2	0	APBA1	71321336	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.090000	0.71397	1.373000	0.46208	0.561000	0.74099	GCG		0.721	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		15	17	15	17
APOO	79135	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	23899066	23899066	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:23899066T>A	ENST00000379226.4	-	2	244	c.13A>T	c.(13-15)Att>Ttt	p.I5F	APOO_ENST00000379220.3_Missense_Mutation_p.I5F	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	5					lipid transport (GO:0006869)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|mitochondrion (GO:0005739)|very-low-density lipoprotein particle (GO:0034361)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACCTCTGAATTACCTGAAAT	0.478																																																0													52.0	47.0	49.0					X																	23899066		2203	4300	6503	SO:0001583	missense	79135			BC016814	CCDS14208.1	Xp22.11	2013-01-24	2007-01-17	2007-01-17	ENSG00000184831	ENSG00000184831		"""Apolipoproteins"""	28727	protein-coding gene	gene with protein product		300753	"""family with sequence similarity 121B"""	FAM121B		12975309, 16956892	Standard	NR_026545		Approved	MGC4825, My025	uc004dax.3	Q9BUR5	OTTHUMG00000021259	ENST00000379226.4:c.13A>T	X.37:g.23899066T>A	ENSP00000368528:p.Ile5Phe		B2R4K9|Q9H3J9	Missense_Mutation	SNP	ENST00000379226.4	37	CCDS14208.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019435	0.35606	.	.	ENSG00000184831	ENST00000379226;ENST00000379220	.	.	.	5.01	0.957	0.19613	.	0.423932	0.26156	N	0.026008	T	0.39145	0.1067	L	0.43152	1.355	0.36501	D	0.869018	P	0.35383	0.498	B	0.31191	0.125	T	0.37596	-0.9699	9	0.51188	T	0.08	-0.9762	9.8555	0.41084	0.0:0.0:0.5336:0.4664	.	5	Q9BUR5	APOO_HUMAN	F	5	.	ENSP00000368522:I5F	I	-	1	0	APOO	23808987	1.000000	0.71417	0.993000	0.49108	0.647000	0.38526	1.148000	0.31614	-0.025000	0.13918	-0.378000	0.06908	ATT		0.478	APOO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056074.1	NM_024122		36	47	36	47
HLTF	6596	broad.mit.edu;ucsc.edu	37	3	148792096	148792096	+	Silent	SNP	A	A	C			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:148792096A>C	ENST00000310053.5	-	4	628	c.435T>G	c.(433-435)ccT>ccG	p.P145P	HLTF_ENST00000392912.2_Silent_p.P145P|HLTF_ENST00000465259.1_Silent_p.P145P|HLTF_ENST00000494055.1_Silent_p.P145P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	145					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATATGCAGAGGCATGGTAA	0.363																																																0													96.0	93.0	94.0					3																	148792096		2203	4299	6502	SO:0001819	synonymous_variant	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.435T>G	3.37:g.148792096A>C			D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	ENST00000310053.5	37	CCDS33875.1																																																																																				0.363	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1			34	23	34	23
LUZP4	51213	broad.mit.edu;ucsc.edu	37	X	114541268	114541268	+	Missense_Mutation	SNP	G	G	A	rs201126715		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:114541268G>A	ENST00000371920.3	+	4	848	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	281						nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428																																																0													85.0	76.0	79.0					X																	114541268		2203	4300	6503	SO:0001583	missense	51213			AF124430	CCDS14567.1	Xq24	2009-03-25			ENSG00000102021	ENSG00000102021			24971	protein-coding gene	gene with protein product	"""cancer/testis antigen 28"""	300616				12032826, 11051238	Standard	XM_005268343		Approved	HOM-TES-85, CT-8, CT28	uc004eqa.3	Q9P127	OTTHUMG00000022234	ENST00000371920.3:c.841G>A	X.37:g.114541268G>A	ENSP00000360988:p.Val281Met		B3KSD6	Missense_Mutation	SNP	ENST00000371920.3	37	CCDS14567.1	.	.	.	.	.	.	.	.	.	.	a	5.700	0.313756	0.10789	.	.	ENSG00000102021	ENST00000451986;ENST00000371920	T;T	0.78003	-1.14;-1.14	3.58	-7.16	0.01516	.	0.642575	0.13045	N	0.418237	T	0.52581	0.1743	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25847	-1.0120	10	0.41790	T	0.15	.	11.3354	0.49500	0.28:0.1155:0.6045:0.0	.	199;281	B3KSD6;Q9P127	.;LUZP4_HUMAN	M	199;281	ENSP00000411212:V199M;ENSP00000360988:V281M	ENSP00000360988:V281M	V	+	1	0	LUZP4	114447524	0.000000	0.05858	0.000000	0.03702	0.141000	0.21300	-0.794000	0.04584	-2.420000	0.00564	-0.976000	0.02587	GTG		0.428	LUZP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057972.1	NM_016383		23	114	23	114
PGM3	5238	broad.mit.edu;ucsc.edu	37	6	83884095	83884095	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:83884095G>T	ENST00000283977.4	-	9	1123	c.997C>A	c.(997-999)Cag>Aag	p.Q333K	PGM3_ENST00000512866.1_Missense_Mutation_p.Q414K|PGM3_ENST00000513973.1_Missense_Mutation_p.Q414K|PGM3_ENST00000506587.1_Missense_Mutation_p.Q442K					phosphoglucomutase 3											NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTTCTGACCTGGTTAAACAAG	0.383																																																0													145.0	134.0	138.0					6																	83884095		2202	4297	6499	SO:0001583	missense	5238			BC001258	CCDS4997.1, CCDS56435.1, CCDS56436.1, CCDS75487.1	6q14.1-q15	2012-10-02			ENSG00000013375	ENSG00000013375	5.4.2.3		8907	protein-coding gene	gene with protein product	"""acetylglucosamine phosphomutase"""	172100				12174217, 10721701	Standard	NM_001199917		Approved	AGM1, DKFZP434B187, PAGM	uc011dyz.2	O95394	OTTHUMG00000015110	ENST00000283977.4:c.997C>A	6.37:g.83884095G>T	ENSP00000283977:p.Gln333Lys			Missense_Mutation	SNP	ENST00000283977.4	37		.	.	.	.	.	.	.	.	.	.	G	21.9	4.213321	0.79352	.	.	ENSG00000013375	ENST00000513973;ENST00000512866;ENST00000283977;ENST00000506587;ENST00000509219	T;T;T;T;T	0.51071	0.74;0.73;0.76;0.72;0.77	6.03	6.03	0.97812	.	0.050142	0.85682	D	0.000000	T	0.58047	0.2095	M	0.91140	3.18	0.80722	D	1	P;P;P	0.50943	0.805;0.917;0.94	B;P;B	0.45343	0.14;0.477;0.297	T	0.67768	-0.5585	10	0.49607	T	0.09	-41.9359	20.5666	0.99351	0.0:0.0:1.0:0.0	.	442;442;414	E9PF86;B4DX94;O95394	.;.;AGM1_HUMAN	K	414;414;333;442;45	ENSP00000424874:Q414K;ENSP00000421565:Q414K;ENSP00000283977:Q333K;ENSP00000425809:Q442K;ENSP00000423389:Q45K	ENSP00000283977:Q333K	Q	-	1	0	PGM3	83940814	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.620000	0.83070	2.854000	0.98071	0.655000	0.94253	CAG		0.383	PGM3-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000366385.2	NM_015599		3	7	3	7
KIF1B	23095	broad.mit.edu;ucsc.edu	37	1	10386237	10386237	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:10386237C>T	ENST00000377086.1	+	27	2946	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	KIF1B_ENST00000377081.1_Missense_Mutation_p.T915M|KIF1B_ENST00000263934.6_Missense_Mutation_p.T869M			O60333	KIF1B_HUMAN	kinesin family member 1B	915					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.T869M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACTTTTTCCACGGCCGATTCC	0.572																																																1	Substitution - Missense(1)	endometrium(1)											147.0	143.0	144.0					1																	10386237		2203	4300	6503	SO:0001583	missense	23095			AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2744C>T	1.37:g.10386237C>T	ENSP00000366290:p.Thr915Met		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37		.	.	.	.	.	.	.	.	.	.	C	21.1	4.094755	0.76870	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.72615	-0.59;-0.67;-0.67	5.74	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.56396	0.1982	N	0.03608	-0.345	0.58432	D	0.999995	D;D;D;D;P;P	0.63046	0.992;0.99;0.975;0.99;0.692;0.887	P;P;B;P;B;B	0.50490	0.623;0.469;0.374;0.642;0.042;0.157	T	0.62291	-0.6885	10	0.33141	T	0.24	.	14.49	0.67645	0.0:0.93:0.0:0.07	.	901;875;915;889;915;869	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	M	915;869;915;915	ENSP00000263934:T869M;ENSP00000366290:T915M;ENSP00000366284:T915M	ENSP00000263934:T869M	T	+	2	0	KIF1B	10308824	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.778000	0.68940	1.431000	0.47355	0.650000	0.86243	ACG		0.572	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			21	250	21	250
DNAH11	8701	broad.mit.edu;ucsc.edu	37	7	21640450	21640450	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:21640450C>T	ENST00000409508.3	+	16	3188	c.3157C>T	c.(3157-3159)Ctc>Ttc	p.L1053F	DNAH11_ENST00000328843.6_Missense_Mutation_p.L1053F	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1053	Stem. {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						GAAGCATTTTCTCTTGTATGG	0.438									Kartagener syndrome																																							0													172.0	165.0	167.0					7																	21640450		1950	4145	6095	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	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.3157C>T	7.37:g.21640450C>T	ENSP00000475939:p.Leu1053Phe		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	C	17.27	3.346051	0.61073	.	.	ENSG00000105877	ENST00000328843	T	0.26067	1.76	5.41	5.41	0.78517	.	0.150478	0.45126	D	0.000384	T	0.48277	0.1491	.	.	.	0.51767	D	0.999932	D	0.89917	1.0	D	0.85130	0.997	T	0.48670	-0.9015	9	0.62326	D	0.03	.	9.5475	0.39291	0.0:0.8428:0.0:0.1572	.	1053	Q96DT5	DYH11_HUMAN	F	1053	ENSP00000330671:L1053F	ENSP00000330671:L1053F	L	+	1	0	DNAH11	21606975	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	3.570000	0.53834	2.554000	0.86153	0.551000	0.68910	CTC		0.438	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		57	160	57	160
KIF19	124602	broad.mit.edu;ucsc.edu	37	17	72343952	72343952	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:72343952G>A	ENST00000389916.4	+	9	1099	c.961G>A	c.(961-963)Gct>Act	p.A321T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	321	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTGATGATCGCTCACATCAG	0.627																																																0													91.0	55.0	67.0					17																	72343952		2200	4287	6487	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.961G>A	17.37:g.72343952G>A	ENSP00000374566:p.Ala321Thr		A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	37	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991483	0.74703	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.76968	-1.06;-1.06	5.68	5.68	0.88126	Kinesin, motor domain (3);	.	.	.	.	D	0.89455	0.6720	M	0.86573	2.825	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.997;0.997	D;P;P;P	0.67900	0.954;0.83;0.778;0.866	D	0.90249	0.4292	9	0.59425	D	0.04	.	18.629	0.91352	0.0:0.0:1.0:0.0	.	321;279;279;321	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	T	279;321	ENSP00000449134:A279T;ENSP00000374566:A321T	ENSP00000374566:A321T	A	+	1	0	KIF19	69855547	1.000000	0.71417	0.977000	0.42913	0.080000	0.17528	9.437000	0.97535	2.705000	0.92388	0.556000	0.70494	GCT		0.627	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209		3	8	3	8
DCAF12L1	139170	broad.mit.edu;ucsc.edu	37	X	125686452	125686452	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:125686452G>A	ENST00000371126.1	-	1	382	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	47								p.T47M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAGCGATACGTCGCCGGCCG	0.721																																																1	Substitution - Missense(1)	central_nervous_system(1)											21.0	27.0	25.0					X																	125686452		2163	4175	6338	SO:0001583	missense	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.140C>T	X.37:g.125686452G>A	ENSP00000360167:p.Thr47Met		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.696081	0.30052	.	.	ENSG00000198889	ENST00000371126	T	0.18016	2.24	3.48	-0.309	0.12769	.	.	.	.	.	T	0.14485	0.0350	L	0.61218	1.895	0.09310	N	1	P	0.48350	0.909	B	0.39027	0.288	T	0.16364	-1.0405	9	0.66056	D	0.02	.	3.4344	0.07440	0.4786:0.0:0.3317:0.1898	.	47	Q5VU92	DC121_HUMAN	M	47	ENSP00000360167:T47M	ENSP00000360167:T47M	T	-	2	0	DCAF12L1	125514133	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.815000	0.27253	-0.223000	0.09943	0.506000	0.49869	ACG		0.721	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		21	54	21	54
PTEN	5728	broad.mit.edu;hgsc.bcm.edu	37	10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A	rs587782341		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	67	Whole gene deletion(37)|Insertion - Frameshift(14)|Deletion - Frameshift(11)|Substitution - Nonsense(2)|Deletion - In frame(1)|Unknown(1)|Substitution - Missense(1)	central_nervous_system(16)|prostate(16)|skin(7)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|lung(5)|ovary(5)|breast(4)|urinary_tract(2)|soft_tissue(1)	GRCh37	CI043805	PTEN	I																																				SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.741dupA	10.37:g.89717716_89717716dupA	ENSP00000361021:p.Pro248fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	CCDS31238.1																																																																																				0.406	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		48	56	48	56
BACH1	571	broad.mit.edu;hgsc.bcm.edu	37	21	30699512	30699513	+	Frame_Shift_Del	DEL	TA	TA	-	rs145991657		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:30699512_30699513delTA	ENST00000399921.1	+	3	1610_1611	c.1367_1368delTA	c.(1366-1368)ttafs	p.L456fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.L456fs	NM_206866.1	NP_996749.1	Q9BX63	FANCJ_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	0					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTCACAACATTAAGTTCTGTCA	0.436																																																0																																										SO:0001589	frameshift_variant	571			AF026200	CCDS13585.1	21q22.1	2013-01-10			ENSG00000156273	ENSG00000156273		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	935	protein-coding gene	gene with protein product		602751				9544839, 9479503	Standard	NR_027655		Approved	BACH-1, BTBD24	uc002ynj.3	O14867	OTTHUMG00000078878	ENST00000399921.1:c.1367_1368delTA	21.37:g.30699512_30699513delTA	ENSP00000382805:p.Leu456fs		Q3MJE2|Q8NCI5	Frame_Shift_Del	DEL	ENST00000399921.1	37	CCDS13585.1																																																																																				0.436	BACH1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171974.1	NM_206866		29	52	29	52
