#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	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_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
RADIL	55698	hgsc.bcm.edu	37	7	4854989	4854989	+	Missense_Mutation	SNP	C	C	T	rs375439747		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:4854989C>T	ENST00000399583.3	-	9	2246	c.2059G>A	c.(2059-2061)Ggg>Agg	p.G687R	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Missense_Mutation_p.G447R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	687	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCAGCCGCCCCGAAGCCGGCG	0.687																																																	0			7						C	ARG/GLY	0,3670		0,0,1835	6.0	8.0	8.0		2059	5.7	0.9	7		8	1,8039		0,1,4019	no	missense	RADIL	NM_018059.4	125	0,1,5854	TT,TC,CC		0.0124,0.0,0.0085	probably-damaging	687/1076	4854989	1,11709	1835	4020	5855	4821515	SO:0001583	missense	55698			AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2059G>A	7.37:g.4854989C>T	ENSP00000382492:p.Gly687Arg	Somatic		Capture	Illumina HiSeq	Phase_I	4821515	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Missense_Mutation	SNP	ENST00000399583.3	37	CCDS43544.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754618	0.69648	0.0	1.24E-4	ENSG00000157927	ENST00000399583;ENST00000316919;ENST00000544486;ENST00000538469	T;T	0.08807	3.12;3.05	5.74	5.74	0.90152	Dilute (1);Dil domain (1);	0.116109	0.64402	D	0.000017	T	0.28433	0.0703	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00090	-1.2087	10	0.46703	T	0.11	-41.4825	17.0678	0.86564	0.0:1.0:0.0:0.0	.	687	Q96JH8	RADIL_HUMAN	R	687;658;421;447	ENSP00000382492:G687R;ENSP00000442966:G447R	ENSP00000320946:G658R	G	-	1	0	RADIL	4821515	0.998000	0.40836	0.885000	0.34714	0.021000	0.10359	7.063000	0.76714	2.719000	0.93026	0.655000	0.94253	GGG		RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	
GPNMB	10457	hgsc.bcm.edu	37	7	23296588	23296588	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:23296588G>A	ENST00000381990.2	+	4	606	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	GPNMB_ENST00000409458.3_Missense_Mutation_p.G149S|GPNMB_ENST00000258733.4_Missense_Mutation_p.G149S|GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000539136.1_Missense_Mutation_p.G50S	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	149					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AAATGGCACCGGCCAAAGCCA	0.493																																																	0			7											131.0	109.0	117.0					7																	23296588		2203	4300	6503	23263113	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.445G>A	7.37:g.23296588G>A	ENSP00000371420:p.Gly149Ser	Somatic		Capture	Illumina HiSeq	Phase_I	23263113	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	7.289	0.610760	0.14066	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	5.29	-1.22	0.09494	.	0.855363	0.10523	N	0.664689	T	0.03178	0.0093	N	0.00801	-1.175	0.09310	N	1	B;B;B;B	0.23891	0.093;0.056;0.015;0.093	B;B;B;B	0.17098	0.011;0.005;0.002;0.017	T	0.37641	-0.9697	10	0.08179	T	0.78	-1.0E-4	1.3244	0.02123	0.4264:0.2623:0.1828:0.1285	.	50;149;149;149	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	S	149;184;149;149;50	ENSP00000258733:G149S;ENSP00000371420:G149S;ENSP00000386476:G149S;ENSP00000445266:G50S	ENSP00000258733:G149S	G	+	1	0	GPNMB	23263113	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.345000	0.19979	-0.370000	0.08016	-1.045000	0.02358	GGC		GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
ABCA13	154664	hgsc.bcm.edu	37	7	48285546	48285546	+	Silent	SNP	T	T	C	rs538791067		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:48285546T>C	ENST00000435803.1	+	13	1602	c.1578T>C	c.(1576-1578)ggT>ggC	p.G526G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	526					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATATGGGGTGGTCTCCAGG	0.448																																																	0			7											83.0	77.0	79.0					7																	48285546		1877	4109	5986	48256092	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1578T>C	7.37:g.48285546T>C		Somatic		Capture	Illumina HiSeq	Phase_I	48256092	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
EGFR	1956	hgsc.bcm.edu	37	7	55242497	55242497	+	Missense_Mutation	SNP	A	A	G	rs121913463|rs397517100		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:55242497A>G	ENST00000275493.2	+	19	2444	c.2267A>G	c.(2266-2268)aAc>aGc	p.N756S	EGFR_ENST00000454757.2_Missense_Mutation_p.N703S|EGFR_ENST00000455089.1_Missense_Mutation_p.N711S|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	756	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Missing (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		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)	p.S752_I759del(13)|p.T751_I759>N(8)|p.T751_I759>S(3)|p.A750_E758>P(2)|p.T751_I759del(2)|p.A750_E758del(1)|p.N756S(1)|p.T751_I759>REA(1)|p.T751_E758del(1)|p.P753_I759del(1)		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)	CCGAAAGCCAACAAGGAAATC	0.493		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"""	33	Deletion - In frame(18)|Complex - deletion inframe(14)|Substitution - Missense(1)	lung(31)|breast(2)	7											99.0	94.0	95.0					7																	55242497		2203	4300	6503	55209991	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.2267A>G	7.37:g.55242497A>G	ENSP00000275493:p.Asn756Ser	Somatic		Capture	Illumina HiSeq	Phase_I	55209991	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	17.07	3.295521	0.60086	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.81996	-1.56;-1.56;-1.56	5.45	5.45	0.79879	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.74891	0.3776	N	0.20574	0.59	0.58432	D	0.999996	B;P	0.45634	0.027;0.863	B;B	0.42827	0.007;0.399	T	0.78468	-0.2192	10	0.54805	T	0.06	.	14.3314	0.66559	1.0:0.0:0.0:0.0	.	711;756	Q504U8;P00533	.;EGFR_HUMAN	S	711;626;756;703	ENSP00000415559:N711S;ENSP00000275493:N756S;ENSP00000395243:N703S	ENSP00000275493:N756S	N	+	2	0	EGFR	55209991	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	9.236000	0.95360	2.068000	0.61886	0.459000	0.35465	AAC		EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
EGFR	1956	hgsc.bcm.edu	37	7	55249140	55249140	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:55249140A>G	ENST00000275493.2	+	20	2615	c.2438A>G	c.(2437-2439)tAc>tGc	p.Y813C	EGFR_ENST00000454757.2_Missense_Mutation_p.Y760C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y768C|EGFR_ENST00000442591.1_Intron|EGFR-AS1_ENST00000442411.1_RNA	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	813	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)	p.Y813C(1)		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)	GGCTCCCAGTACCTGCTCAAC	0.572		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"""	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	7											86.0	75.0	79.0					7																	55249140		2203	4300	6503	55216634	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.2438A>G	7.37:g.55249140A>G	ENSP00000275493:p.Tyr813Cys	Somatic		Capture	Illumina HiSeq	Phase_I	55216634	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	15.45	2.835742	0.50951	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82526	-1.62;-1.62;-1.62	5.92	3.56	0.40772	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.527828	0.23224	N	0.050535	D	0.83308	0.5226	L	0.27053	0.805	0.49299	D	0.999773	P;P	0.49090	0.497;0.919	B;D	0.68192	0.276;0.956	T	0.79654	-0.1713	10	0.39692	T	0.17	.	9.4994	0.39008	0.8558:0.0:0.1442:0.0	.	768;813	Q504U8;P00533	.;EGFR_HUMAN	C	768;683;813;760	ENSP00000415559:Y768C;ENSP00000275493:Y813C;ENSP00000395243:Y760C	ENSP00000275493:Y813C	Y	+	2	0	EGFR	55216634	0.995000	0.38212	0.761000	0.31378	0.966000	0.64601	4.348000	0.59379	0.494000	0.27859	-0.290000	0.09829	TAC		EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
CROT	54677	hgsc.bcm.edu	37	7	86986890	86986890	+	Intron	SNP	G	G	A	rs575091816		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:86986890G>A	ENST00000331536.3	+	4	300				CROT_ENST00000419147.2_Silent_p.T61T|CROT_ENST00000412227.2_Intron|CROT_ENST00000442291.1_Intron	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	tggatctcacgcgggaaggaa	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18964	0.0		0.0	False		,,,				2504	0.0																0			7											97.0	82.0	87.0					7																	86986890		692	1591	2283	86824826	SO:0001627	intron_variant	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.116-1632G>A	7.37:g.86986890G>A		Somatic		Capture	Illumina HiSeq	Phase_I	86824826	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Silent	SNP	ENST00000331536.3	37	CCDS5604.1																																																																																				CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
HEPACAM2	253012	hgsc.bcm.edu	37	7	92848754	92848754	+	Silent	SNP	C	C	T	rs375176875		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:92848754C>T	ENST00000394468.2	-	2	167	c.90G>A	c.(88-90)tcG>tcA	p.S30S	HEPACAM2_ENST00000453812.2_Silent_p.S53S|HEPACAM2_ENST00000440868.1_Silent_p.S18S|HEPACAM2_ENST00000341723.4_Silent_p.S18S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	30					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.S30S(1)|p.S18S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CCTTCAGCCCCGAGCAAGCAC	0.517																																																	2	Substitution - coding silent(2)	lung(2)	7						C	,	1,4405	2.1+/-5.4	0,1,2202	138.0	133.0	135.0		90,54	-6.0	0.0	7		135	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	HEPACAM2	NM_001039372.1,NM_198151.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	30/463,18/451	92848754	1,13005	2203	4300	6503	92686690	SO:0001819	synonymous_variant	253012			AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.90G>A	7.37:g.92848754C>T		Somatic		Capture	Illumina HiSeq	Phase_I	92686690	B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Silent	SNP	ENST00000394468.2	37	CCDS43616.1																																																																																				HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151	
PON3	5446	hgsc.bcm.edu	37	7	94993256	94993256	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:94993256A>G	ENST00000265627.5	-	6	624	c.614T>C	c.(613-615)cTt>cCt	p.L205P	PON1_ENST00000542556.1_Intron|PON3_ENST00000427422.1_Missense_Mutation_p.L205P|PON3_ENST00000451904.1_Missense_Mutation_p.L205P	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	205					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	GCTGTAGAAAAGAACATAAGT	0.443																																																	0			7											182.0	187.0	185.0					7																	94993256		2203	4300	6503	94831192	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.614T>C	7.37:g.94993256A>G	ENSP00000265627:p.Leu205Pro	Somatic		Capture	Illumina HiSeq	Phase_I	94831192	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.935290	0.73442	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.47177	0.85;0.85	5.27	4.12	0.48240	Six-bladed beta-propeller, TolB-like (1);	0.387835	0.28442	N	0.015332	T	0.58032	0.2094	M	0.66939	2.045	0.28015	N	0.934745	D;P	0.54397	0.966;0.953	P;P	0.55161	0.77;0.74	T	0.56842	-0.7912	10	0.87932	D	0	-2.1494	10.806	0.46518	0.9247:0.0:0.0753:0.0	.	253;205	B4E2I0;Q15166	.;PON3_HUMAN	P	205	ENSP00000265627:L205P;ENSP00000413276:L205P	ENSP00000265627:L205P	L	-	2	0	PON3	94831192	0.999000	0.42202	0.022000	0.16811	0.325000	0.28411	6.606000	0.74159	0.958000	0.37956	0.533000	0.62120	CTT		PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1	NM_000940	
TRRAP	8295	hgsc.bcm.edu	37	7	98552797	98552797	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:98552797C>T	ENST00000359863.4	+	40	5995	c.5786C>T	c.(5785-5787)cCg>cTg	p.P1929L	TRRAP_ENST00000446306.3_Missense_Mutation_p.P1910L|TRRAP_ENST00000355540.3_Missense_Mutation_p.P1911L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1929					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATTCTGACCCCGGCGGTGCCG	0.592																																																	0			7											50.0	45.0	47.0					7																	98552797		2203	4300	6503	98390733	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5786C>T	7.37:g.98552797C>T	ENSP00000352925:p.Pro1929Leu	Somatic		Capture	Illumina HiSeq	Phase_I	98390733	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.300148|5.300148	0.95574|0.95574	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306|ENST00000456197	T;T|.	0.56103|.	0.48;0.48|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.85474|0.85474	0.5705|0.5705	M|M	0.89904|0.89904	3.07|3.07	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;0.998;0.999|.	D|D	0.87473|0.87473	0.2415|0.2415	10|5	0.87932|.	D|.	0|.	.|.	19.5376|19.5376	0.95260|0.95260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1911;1650;1929|.	Q9Y4A5-2;Q59FH1;Q9Y4A5|.	.;.;TRRAP_HUMAN|.	L|W	1929;1911;1909|1651	ENSP00000352925:P1929L;ENSP00000347733:P1911L|.	ENSP00000347733:P1911L|.	P|R	+|+	2|1	0|2	TRRAP|TRRAP	98390733|98390733	1.000000|1.000000	0.71417|0.71417	0.196000|0.196000	0.23383|0.23383	0.989000|0.989000	0.77384|0.77384	7.818000|7.818000	0.86416|0.86416	2.620000|2.620000	0.88729|0.88729	0.655000|0.655000	0.94253|0.94253	CCG|CGG		TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
MCM7	4176	hgsc.bcm.edu	37	7	99697372	99697372	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:99697372C>T	ENST00000303887.5	-	3	761	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000354230.3_5'UTR|AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.R39Q|AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000429084.1_5'Flank	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	39					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGAGCCAGCCGAACCTCAAG	0.532																																																	0			7											71.0	66.0	68.0					7																	99697372		2203	4300	6503	99535308	SO:0001583	missense	4176				CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.116G>A	7.37:g.99697372C>T	ENSP00000307288:p.Arg39Gln	Somatic		Capture	Illumina HiSeq	Phase_I	99535308	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.383997	0.25031	.	.	ENSG00000166508	ENST00000343023;ENST00000303887	T;T	0.10668	2.85;2.85	4.4	-8.8	0.00817	Nucleic acid-binding, OB-fold-like (1);	1.072940	0.07082	N	0.837262	T	0.05868	0.0153	N	0.11341	0.13	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.42699	-0.9436	10	0.17369	T	0.5	0.002	18.4362	0.90646	0.0:0.144:0.0:0.856	.	39	P33993	MCM7_HUMAN	Q	39	ENSP00000344006:R39Q;ENSP00000307288:R39Q	ENSP00000307288:R39Q	R	-	2	0	MCM7	99535308	0.000000	0.05858	0.000000	0.03702	0.212000	0.24457	-0.942000	0.03921	-2.666000	0.00416	-0.259000	0.10710	CGG		MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
NRCAM	4897	hgsc.bcm.edu	37	7	107790561	107790561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:107790561C>A	ENST00000425651.2	-	30	3708	c.3709G>T	c.(3709-3711)Gga>Tga	p.G1237*	NRCAM_ENST00000413765.2_Nonsense_Mutation_p.G1113*|NRCAM_ENST00000379028.3_Nonsense_Mutation_p.G1237*|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379024.4_Nonsense_Mutation_p.G1125*|NRCAM_ENST00000351718.4_Nonsense_Mutation_p.G1116*	NM_001037132.2	NP_001032209.1	Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1237					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|neuron migration (GO:0001764)|neuronal action potential propagation (GO:0019227)|positive regulation of neuron differentiation (GO:0045666)|protein localization (GO:0008104)|regulation of axon extension (GO:0030516)|retinal ganglion cell axon guidance (GO:0031290)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)	axon initial segment (GO:0043194)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ankyrin binding (GO:0030506)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTTCGACTTCCTTTTTTCAAA	0.398																																																	0			7											187.0	175.0	179.0					7																	107790561		2203	4300	6503	107577797	SO:0001587	stop_gained	4897				CCDS5751.1, CCDS47686.1, CCDS55153.1, CCDS75652.1	7q31	2013-02-11			ENSG00000091129	ENSG00000091129		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7994	protein-coding gene	gene with protein product	"""NgCAM-related cell adhesion molecule"""	601581				8812479	Standard	NM_001037132		Approved	KIAA0343, Bravo	uc022aka.1	Q92823	OTTHUMG00000154973	ENST00000425651.2:c.3709G>T	7.37:g.107790561C>A	ENSP00000401244:p.Gly1237*	Somatic		Capture	Illumina HiSeq	Phase_I	107577797	A4D0S3|E9PDA4|O15051|O15179|Q14BM2|Q9UHI3|Q9UHI4	Nonsense_Mutation	SNP	ENST00000425651.2	37	CCDS47686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	11.024662|11.024662	0.99504|0.99504	.|.	.|.	ENSG00000091129|ENSG00000091129	ENST00000379032;ENST00000379028;ENST00000413765;ENST00000537765;ENST00000437386;ENST00000351718;ENST00000379024;ENST00000425651|ENST00000445634	.|D	.|0.86366	.|-2.11	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.045544|.	0.85682|.	D|.	0.000000|.	.|D	.|0.93439	.|0.7907	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.92761	.|0.6224	.|6	0.87932|0.62326	D|D	0|0.03	.|.	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|N	1241;1237;1113;1144;81;1116;1125;1237|135	.|ENSP00000398174:K135N	ENSP00000325269:G1116X|ENSP00000398174:K135N	G|K	-|-	1|3	0|2	NRCAM|NRCAM	107577797|107577797	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.818000|7.818000	0.86416|0.86416	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GGA|AAG		NRCAM-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337942.2	NM_001037132	
CTTNBP2	83992	hgsc.bcm.edu	37	7	117432608	117432608	+	Silent	SNP	G	G	T	rs138336454		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:117432608G>T	ENST00000160373.3	-	4	733	c.642C>A	c.(640-642)tcC>tcA	p.S214S	CTTNBP2_ENST00000487820.1_5'Flank	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	214					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.S214S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GTTTCTCAGCGGAGAGTTCCT	0.478																																																	1	Substitution - coding silent(1)	ovary(1)	7											134.0	120.0	125.0					7																	117432608		2203	4300	6503	117219844	SO:0001819	synonymous_variant	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.642C>A	7.37:g.117432608G>T		Somatic		Capture	Illumina HiSeq	Phase_I	117219844	O43389|Q7LG11|Q9C0A5	Silent	SNP	ENST00000160373.3	37	CCDS5774.1																																																																																				CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427	
CPED1	79974	hgsc.bcm.edu	37	7	120629703	120629703	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:120629703C>T	ENST00000310396.5	+	2	495	c.28C>T	c.(28-30)Cgt>Tgt	p.R10C	CPED1_ENST00000495036.1_3'UTR|CPED1_ENST00000450913.2_Missense_Mutation_p.R10C|CPED1_ENST00000340646.5_Missense_Mutation_p.R10C	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	10						endoplasmic reticulum (GO:0005783)		p.R10C(1)									GTTCCCTTGTCGTCGGCGATT	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)	7											127.0	113.0	117.0					7																	120629703		2203	4300	6503	120416939	SO:0001583	missense	79974				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.28C>T	7.37:g.120629703C>T	ENSP00000309772:p.Arg10Cys	Somatic		Capture	Illumina HiSeq	Phase_I	120416939	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696073	0.48202	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000340646	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.64	4.75	0.60458	.	0.149146	0.46758	D	0.000277	T	0.41558	0.1164	L	0.46157	1.445	0.50632	D	0.999888	P;P	0.41947	0.766;0.655	B;B	0.33121	0.158;0.076	T	0.49986	-0.8880	10	0.87932	D	0	.	11.3463	0.49563	0.0:0.9173:0.0:0.0827	.	10;10	A4D0V7-2;A4D0V7	.;CG058_HUMAN	C	10	ENSP00000309772:R10C;ENSP00000398082:R10C;ENSP00000406122:R10C;ENSP00000345235:R10C	ENSP00000309772:R10C	R	+	1	0	C7orf58	120416939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	2.662000	0.90505	0.655000	0.94253	CGT		CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913	
GPR37	2861	hgsc.bcm.edu	37	7	124404321	124404321	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:124404321C>T	ENST00000303921.2	-	1	1360	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	237					dopamine biosynthetic process (GO:0042416)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotion involved in locomotory behavior (GO:0031987)|positive regulation of dopamine metabolic process (GO:0045964)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ubiquitin ligase complex (GO:0000151)	G-protein coupled receptor activity (GO:0004930)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCTGTTTCCCCGGCGGGGACC	0.642																																																	0			7											44.0	46.0	46.0					7																	124404321		2203	4300	6503	124191557	SO:0001583	missense	2861				CCDS5792.1	7q31	2012-08-21			ENSG00000170775	ENSG00000170775		"""GPCR / Class A : Orphans"""	4494	protein-coding gene	gene with protein product		602583				9339362	Standard	NM_005302		Approved	EDNRBL, hET(B)R-LP, PAELR	uc003vli.4	O15354	OTTHUMG00000157197	ENST00000303921.2:c.710G>A	7.37:g.124404321C>T	ENSP00000306449:p.Arg237Gln	Somatic		Capture	Illumina HiSeq	Phase_I	124191557	A4D0Y6|O00348|O14768|Q8TD39	Missense_Mutation	SNP	ENST00000303921.2	37	CCDS5792.1	.	.	.	.	.	.	.	.	.	.	C	9.651	1.141680	0.21205	.	.	ENSG00000170775	ENST00000303921	T	0.37235	1.21	5.49	2.67	0.31697	.	0.485590	0.21892	N	0.067561	T	0.19846	0.0477	L	0.40543	1.245	0.09310	N	1	D	0.60160	0.987	B	0.34418	0.182	T	0.19549	-1.0302	10	0.15499	T	0.54	-6.2098	8.4741	0.33003	0.0:0.6265:0.2947:0.0788	.	237	O15354	GPR37_HUMAN	Q	237	ENSP00000306449:R237Q	ENSP00000306449:R237Q	R	-	2	0	GPR37	124191557	0.001000	0.12720	0.017000	0.16124	0.149000	0.21700	0.648000	0.24828	0.417000	0.25871	-0.195000	0.12781	CGG		GPR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347873.1	NM_005302	
MKLN1	4289	hgsc.bcm.edu	37	7	131128241	131128241	+	Splice_Site	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:131128241T>C	ENST00000352689.6	+	11	1215	c.1175T>C	c.(1174-1176)aTg>aCg	p.M392T	MKLN1_ENST00000421797.2_Splice_Site_p.M300T	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	392					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCTGATAGATGTGTATGGAC	0.363																																																	0			7											118.0	104.0	109.0					7																	131128241		2203	4300	6503	130778781	SO:0001630	splice_region_variant	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1174-1T>C	7.37:g.131128241T>C		Somatic		Capture	Illumina HiSeq	Phase_I	130778781	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.335113	0.81801	.	.	ENSG00000128585	ENST00000421797;ENST00000352689	T;T	0.66815	-0.23;-0.23	5.56	5.56	0.83823	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.83917	0.5358	M	0.88310	2.945	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.75484	0.986;0.915;0.915	D	0.86192	0.1613	10	0.51188	T	0.08	-18.2761	14.8908	0.70606	0.0:0.0:0.0:1.0	.	392;369;300	Q9UL63;B4DG30;C9J7E8	MKLN1_HUMAN;.;.	T	300;392	ENSP00000398094:M300T;ENSP00000323527:M392T	ENSP00000323527:M392T	M	+	2	0	MKLN1	130778781	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.029000	0.88807	2.113000	0.64589	0.482000	0.46254	ATG		MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255	Missense_Mutation
DENND2A	27147	hgsc.bcm.edu	37	7	140301270	140301270	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:140301270A>G	ENST00000275884.6	-	2	1345	c.928T>C	c.(928-930)Tct>Cct	p.S310P	DENND2A_ENST00000492720.1_Missense_Mutation_p.S310P|DENND2A_ENST00000537639.1_Missense_Mutation_p.S310P|DENND2A_ENST00000496613.1_Missense_Mutation_p.S310P			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	310					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.S310A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ggtgggggagaggagggcaga	0.597																																																	1	Substitution - Missense(1)	ovary(1)	7											44.0	49.0	48.0					7																	140301270		1974	4151	6125	139947739	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.928T>C	7.37:g.140301270A>G	ENSP00000275884:p.Ser310Pro	Somatic		Capture	Illumina HiSeq	Phase_I	139947739	C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	ENST00000275884.6	37	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636863	0.47049	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.10763	3.56;3.56;3.56;2.84	4.85	4.85	0.62838	.	0.209266	0.43260	D	0.000581	T	0.19927	0.0479	L	0.55834	1.745	0.44042	D	0.996779	D;B	0.59357	0.985;0.021	P;B	0.53809	0.735;0.029	T	0.01613	-1.1312	10	0.27785	T	0.31	-9.5576	14.5958	0.68407	1.0:0.0:0.0:0.0	.	310;310	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	P	310	ENSP00000275884:S310P;ENSP00000442245:S310P;ENSP00000419654:S310P;ENSP00000419464:S310P	ENSP00000275884:S310P	S	-	1	0	DENND2A	139947739	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.161000	0.77505	2.038000	0.60285	0.379000	0.24179	TCT		DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
NOS3	4846	hgsc.bcm.edu	37	7	150698638	150698638	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr7:150698638C>A	ENST00000484524.1	+	11	1435	c.1435C>A	c.(1435-1437)Ccc>Acc	p.P479T	NOS3_ENST00000467517.1_Missense_Mutation_p.P479T|NOS3_ENST00000297494.3_Missense_Mutation_p.P479T|NOS3_ENST00000461406.1_Missense_Mutation_p.P273T	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGCCAGACCCCTGGAAGGG	0.597																																																	0			7											123.0	148.0	139.0					7																	150698638		2203	4300	6503	150329571	SO:0001583	missense	342977				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1435C>A	7.37:g.150698638C>A	ENSP00000420215:p.Pro479Thr	Somatic		Capture	Illumina HiSeq	Phase_I	150329571	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354845	0.82243	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.25749	1.78;1.89;1.78;1.78	5.19	5.19	0.71726	Nitric oxide synthase, oxygenase domain (2);	0.000000	0.56097	D	0.000031	T	0.51941	0.1704	M	0.77486	2.375	0.53005	D	0.999969	D;P;P;D;P	0.67145	0.993;0.937;0.949;0.996;0.943	D;P;P;D;P	0.70935	0.957;0.831;0.886;0.971;0.788	T	0.53599	-0.8416	10	0.49607	T	0.09	-8.7981	16.2437	0.82429	0.0:1.0:0.0:0.0	.	479;479;479;273;479	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	T	479;273;479;479	ENSP00000297494:P479T;ENSP00000417143:P273T;ENSP00000420215:P479T;ENSP00000420551:P479T	ENSP00000297494:P479T	P	+	1	0	NOS3	150329571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.724000	0.54962	2.411000	0.81874	0.655000	0.94253	CCC		NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
PLCB1	23236	hgsc.bcm.edu	37	20	8769134	8769134	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr20:8769134G>A	ENST00000338037.6	+	28	3177	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q	PLCB1_ENST00000378641.3_Silent_p.Q1050Q|PLCB1_ENST00000378637.2_Silent_p.Q1050Q|PLCB1_ENST00000494924.1_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1050					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AAGAGTGTCAGAACAATCAGT	0.378																																																	0			20											70.0	68.0	69.0					20																	8769134		2203	4300	6503	8717134	SO:0001819	synonymous_variant	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3150G>A	20.37:g.8769134G>A		Somatic		Capture	Illumina HiSeq	Phase_I	8717134	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Silent	SNP	ENST00000338037.6	37	CCDS13102.1																																																																																				PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
KIZ	55857	hgsc.bcm.edu	37	20	21209692	21209692	+	RNA	SNP	T	T	C	rs372337969		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr20:21209692T>C	ENST00000457464.1	+	0	1319																											CCCTTCAGGATAATACAAATC	0.408																																																	0			20											65.0	60.0	62.0					20																	21209692		1883	4107	5990	21157692			0																															20.37:g.21209692T>C		Somatic		Capture	Illumina HiSeq	Phase_I	21157692		Missense_Mutation	SNP	ENST00000457464.1	37																																																																																					PLK1S1-003	KNOWN	not_organism_supported|sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000078262.2		
SLC13A3	64849	hgsc.bcm.edu	37	20	45192160	45192160	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr20:45192160G>T	ENST00000279027.4	-	12	1543	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M	SLC13A3_ENST00000290317.5_Missense_Mutation_p.L462M|SLC13A3_ENST00000396360.1_Missense_Mutation_p.L427M|SLC13A3_ENST00000435032.1_Missense_Mutation_p.L94M|SLC13A3_ENST00000472148.1_Missense_Mutation_p.L427M|SLC13A3_ENST00000495082.1_Missense_Mutation_p.L462M|SLC13A3_ENST00000413164.2_Missense_Mutation_p.L459M	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	509					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GGAATCATCAGATACAGGGGG	0.612																																																	0			20											41.0	37.0	38.0					20																	45192160		2203	4300	6503	44625567	SO:0001583	missense	64849			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1525C>A	20.37:g.45192160G>T	ENSP00000279027:p.Leu509Met	Somatic		Capture	Illumina HiSeq	Phase_I	44625567	B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	CCDS13400.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459264	0.43634	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02;4.02	5.36	-1.7	0.08159	.	0.191130	0.47093	N	0.000252	T	0.05868	0.0153	M	0.72576	2.205	0.80722	D	1	P;P;P;B;B;P	0.37636	0.603;0.548;0.532;0.184;0.219;0.587	B;B;B;B;P;P	0.44359	0.363;0.281;0.319;0.319;0.447;0.447	T	0.31138	-0.9954	10	0.52906	T	0.07	-6.7871	2.8675	0.05605	0.3187:0.1125:0.4559:0.113	.	459;94;427;462;411;509	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	M	462;427;94;509;427;459;462	ENSP00000290317:L462M;ENSP00000379648:L427M;ENSP00000403394:L94M;ENSP00000279027:L509M;ENSP00000420177:L427M;ENSP00000415852:L459M;ENSP00000419621:L462M	ENSP00000279027:L509M	L	-	1	2	SLC13A3	44625567	0.037000	0.19845	0.078000	0.20375	0.832000	0.47134	0.236000	0.17967	-0.599000	0.05798	0.561000	0.74099	CTG		SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2		
AURKA	6790	hgsc.bcm.edu	37	20	54958085	54958085	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr20:54958085C>T	ENST00000347343.2	-	5	789	c.522G>A	c.(520-522)gtG>gtA	p.V174V	AURKA_ENST00000371356.2_Silent_p.V174V|AURKA_ENST00000395907.1_Silent_p.V174V|AURKA_ENST00000395913.3_Silent_p.V174V|AURKA_ENST00000395915.3_Silent_p.V174V|AURKA_ENST00000395909.4_Silent_p.V174V|AURKA_ENST00000395911.1_Silent_p.V174V|AURKA_ENST00000395914.1_Silent_p.V174V|AURKA_ENST00000312783.6_Silent_p.V174V	NM_003600.2	NP_003591.2	O14965	AURKA_HUMAN	aurora kinase A	174	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> M (in a metastatic melanoma sample; somatic mutation; constitutively enhanced kinase activity). {ECO:0000269|PubMed:17344846}.		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|anterior/posterior axis specification (GO:0009948)|centrosome localization (GO:0051642)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein binding (GO:0032091)|negative regulation of spindle checkpoint (GO:0090233)|neuron projection extension (GO:1990138)|positive regulation of mitosis (GO:0045840)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein autophosphorylation (GO:0046777)|protein localization to centrosome (GO:0071539)|protein phosphorylation (GO:0006468)|regulation of centrosome cycle (GO:0046605)|regulation of protein stability (GO:0031647)|spindle assembly involved in female meiosis I (GO:0007057)|spindle stabilization (GO:0043146)	axon hillock (GO:0043203)|centrosome (GO:0005813)|cytosol (GO:0005829)|germinal vesicle (GO:0042585)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|histone serine kinase activity (GO:0035174)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTGATGCTCCACTCCGGCTT	0.428																																					Melanoma(34;439 1292 51416 52695)|GBM(144;1525 2517 48902 51835)|Esophageal Squamous(191;569 2880 14195 30540)												0			20											113.0	106.0	108.0					20																	54958085		2203	4300	6503	54391492	SO:0001819	synonymous_variant	6790			BC001280	CCDS13451.1	20q13	2012-07-23	2003-07-21	2003-07-23	ENSG00000087586	ENSG00000087586		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	11393	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 47"", ""Aurora-A kinase"""	603072	"""serine/threonine kinase 15"", "" serine/threonine kinase 6"""	STK15, STK6		9174055, 9771714	Standard	NM_003600		Approved	BTAK, AurA, STK7, ARK1, PPP1R47, AIK	uc002xxi.1	O14965	OTTHUMG00000032796	ENST00000347343.2:c.522G>A	20.37:g.54958085C>T		Somatic		Capture	Illumina HiSeq	Phase_I	54391492	E1P5F9|O60445|O75873|Q9BQD6|Q9UPG5	Silent	SNP	ENST00000347343.2	37	CCDS13451.1																																																																																				AURKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079804.3	NM_003600	
TFAP2C	7022	hgsc.bcm.edu	37	20	55211794	55211794	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr20:55211794A>G	ENST00000201031.2	+	6	1294	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V	TFAP2C_ENST00000544508.1_Missense_Mutation_p.M182V	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	351	H-S-H (helix-span-helix), dimerization.				cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TAGGAAGAACATGCTATTGGC	0.463																																																	0			20											124.0	107.0	113.0					20																	55211794		2203	4300	6503	54645201	SO:0001583	missense	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.1051A>G	20.37:g.55211794A>G	ENSP00000201031:p.Met351Val	Somatic		Capture	Illumina HiSeq	Phase_I	54645201	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	A	12.19	1.863715	0.32884	.	.	ENSG00000087510	ENST00000201031;ENST00000544508	D;D	0.96885	-4.16;-4.16	5.6	3.31	0.37934	Transcription factor AP-2, C-terminal (1);	0.111502	0.85682	N	0.000000	D	0.95802	0.8634	M	0.88842	2.985	0.58432	D	0.999999	B	0.06786	0.001	B	0.09377	0.004	D	0.92353	0.5891	10	0.72032	D	0.01	-27.5451	10.0427	0.42169	0.8622:0.0:0.1378:0.0	.	351	Q92754	AP2C_HUMAN	V	351;182	ENSP00000201031:M351V;ENSP00000442274:M182V	ENSP00000201031:M351V	M	+	1	0	TFAP2C	54645201	1.000000	0.71417	0.991000	0.47740	0.644000	0.38419	4.927000	0.63440	0.387000	0.25024	0.482000	0.46254	ATG		TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2	NM_003222	
CLDN5	7122	hgsc.bcm.edu	37	22	19511817	19511817	+	Missense_Mutation	SNP	C	C	T	rs533679011		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr22:19511817C>T	ENST00000406028.1	-	2	1277	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	CLDN5_ENST00000413119.2_Missense_Mutation_p.G73S|CLDN5_ENST00000403084.1_Missense_Mutation_p.G73S			O00501	CLD5_HUMAN	claudin 5	0					calcium-independent cell-cell adhesion (GO:0016338)|myelination (GO:0042552)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			liver(1)|lung(2)|prostate(1)	4	Colorectal(54;0.0993)					CCCGCAGAACCCCCAAGGCCG	0.741																																																	0			22											6.0	10.0	9.0					22																	19511817		2045	3950	5995	17891817	SO:0001583	missense	7122			AF000959	CCDS13763.2	22q11.21	2008-08-01	2008-08-01		ENSG00000184113	ENSG00000184113		"""Claudins"""	2047	protein-coding gene	gene with protein product		602101	"""transmembrane protein deleted in velocardiofacial syndrome"""	AWAL, TMVCF		9441748, 9192844	Standard	NM_003277		Approved	CPETRL1, BEC1	uc002zpu.2	O00501	OTTHUMG00000150441	ENST00000406028.1:c.217G>A	22.37:g.19511817C>T	ENSP00000385477:p.Gly73Ser	Somatic		Capture	Illumina HiSeq	Phase_I	17891817	B3KS11|Q53XW2|Q8WUW3	Missense_Mutation	SNP	ENST00000406028.1	37	CCDS13763.2	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123818	0.37436	.	.	ENSG00000184113	ENST00000406028;ENST00000403084;ENST00000413119	D;D;D	0.87103	-2.21;-2.21;-2.21	4.96	-2.65	0.06095	.	.	.	.	.	T	0.68769	0.3037	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.52939	-0.8508	9	0.23891	T	0.37	.	6.0378	0.19718	0.0:0.5179:0.1212:0.3609	.	73	D3DX19	.	S	73	ENSP00000385477:G73S;ENSP00000384554:G73S;ENSP00000400612:G73S	ENSP00000384554:G73S	G	-	1	0	CLDN5	17891817	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.033000	0.12246	-0.701000	0.05063	-1.012000	0.02466	GGT		CLDN5-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318122.3	NM_003277	
KIAA1671	85379	hgsc.bcm.edu	37	22	25435795	25435795	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr22:25435795C>T	ENST00000406486.4	+	6	3085	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*	KIAA1671_ENST00000358431.3_Nonsense_Mutation_p.R900*			Q9BY89	K1671_HUMAN	KIAA1671	900										autonomic_ganglia(1)|breast(1)|endometrium(2)|lung(2)|prostate(1)|stomach(2)	9						CTCCCAAGCACGAACACATCC	0.627																																																	0			22																																								23765795	SO:0001587	stop_gained	85379				CCDS46676.1	22q11.23	2009-07-09			ENSG00000197077	ENSG00000197077			29345	protein-coding gene	gene with protein product						15289310	Standard	NM_001145206		Approved		uc003abn.3	Q9BY89	OTTHUMG00000150841	ENST00000406486.4:c.2698C>T	22.37:g.25435795C>T	ENSP00000385152:p.Arg900*	Somatic		Capture	Illumina HiSeq	Phase_I	23765795	B0QYF2|B7ZW08|Q5THZ5	Nonsense_Mutation	SNP	ENST00000406486.4	37	CCDS46676.1	.	.	.	.	.	.	.	.	.	.	C	40	8.434331	0.98810	.	.	ENSG00000197077	ENST00000406486;ENST00000358431	.	.	.	4.15	-0.0161	0.13974	.	1.534570	0.04795	N	0.432441	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.1387	0.20247	0.2629:0.399:0.3381:0.0	.	.	.	.	X	900	.	ENSP00000351207:R900X	R	+	1	2	KIAA1671	23765795	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.706000	0.05047	0.338000	0.23692	-1.850000	0.00570	CGA		KIAA1671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320306.6	NM_001145206	
MYO18B	84700	hgsc.bcm.edu	37	22	26176132	26176132	+	Silent	SNP	C	C	T	rs374300047		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr22:26176132C>T	ENST00000407587.2	+	9	2347	c.2178C>T	c.(2176-2178)aaC>aaT	p.N726N	MYO18B_ENST00000335473.7_Silent_p.N726N|MYO18B_ENST00000536101.1_Silent_p.N726N			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	726	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGACTTCAACGCTACAGGCC	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		19100	0.001		0.0	False		,,,				2504	0.0																0			22						C		0,4258		0,0,2129	21.0	23.0	22.0		2178	-9.6	0.1	22		22	1,8481		0,1,4240	no	coding-synonymous	MYO18B	NM_032608.5		0,1,6369	TT,TC,CC		0.0118,0.0,0.0078		726/2568	26176132	1,12739	2129	4241	6370	24506132	SO:0001819	synonymous_variant	84700			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2178C>T	22.37:g.26176132C>T		Somatic		Capture	Illumina HiSeq	Phase_I	24506132	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37																																																																																					MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
LIMK2	3985	hgsc.bcm.edu	37	22	31663887	31663887	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr22:31663887C>T	ENST00000331728.4	+	10	1368	c.1254C>T	c.(1252-1254)cgC>cgT	p.R418R	LIMK2_ENST00000333611.4_Silent_p.R397R|LIMK2_ENST00000406516.1_Silent_p.R340R|LIMK2_ENST00000340552.4_Silent_p.R397R|LIMK2_ENST00000444929.2_Silent_p.R172R	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	418	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in dbSNP:rs35422808). {ECO:0000269|PubMed:17344846}.		phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						ACTTTCTGCGCAGTATGGTGA	0.532																																																	0			22											77.0	70.0	72.0					22																	31663887		2203	4300	6503	29993887	SO:0001819	synonymous_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1254C>T	22.37:g.31663887C>T		Somatic		Capture	Illumina HiSeq	Phase_I	29993887	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	CCDS13891.1																																																																																				LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733	
PABPN1	8106	hgsc.bcm.edu	37	14	23793419	23793419	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr14:23793419G>T	ENST00000216727.4	+	6	983	c.802G>T	c.(802-804)Gcc>Tcc	p.A268S	PABPN1_ENST00000557702.1_Missense_Mutation_p.A140S|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.A295S|PABPN1_ENST00000397276.2_Missense_Mutation_p.A268S|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.A295S|AL049829.1_ENST00000594872.1_5'Flank|PABPN1_ENST00000556821.1_Missense_Mutation_p.A140S	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	268	Necessary for homooligomerization.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CCGCTACCGCGCCCGGACCAC	0.567																																																	0			14											77.0	78.0	78.0					14																	23793419		2203	4300	6503	22863259	SO:0001583	missense	0			AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.802G>T	14.37:g.23793419G>T	ENSP00000216727:p.Ala268Ser	Somatic		Capture	Illumina HiSeq	Phase_I	22863259	D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	37	CCDS9592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.14|12.14	1.847948|1.847948	0.32699|0.32699	.|.	.|.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836|ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702|ENST00000555295	T;T;T;T;T;T|T	0.73897|0.74947	-0.79;-0.79;-0.79;-0.79;-0.79;-0.79|-0.89	5.47|5.47	5.47|5.47	0.80525|0.80525	.|.	0.063724|.	0.64402|.	D|.	0.000006|.	T|T	0.65780|0.65780	0.2724|0.2724	N|N	0.12182|0.12182	0.205|0.205	0.33998|0.33998	D|D	0.64991|0.64991	B;P;B|.	0.36733|.	0.047;0.567;0.228|.	B;B;B|.	0.34489|.	0.032;0.123;0.184|.	T|T	0.69862|0.69862	-0.5030|-0.5030	10|6	0.19590|.	T|.	0.45|.	-7.9693|-7.9693	18.1036|18.1036	0.89513|0.89513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	268;268;295|.	Q86U42;Q86U42-2;G3V5R7|.	PABP2_HUMAN;.;.|.	S|L	295;295;268;268;140;140|67	ENSP00000451320:A295S;ENSP00000452479:A295S;ENSP00000216727:A268S;ENSP00000380446:A268S;ENSP00000451970:A140S;ENSP00000450724:A140S|ENSP00000451592:R67L	ENSP00000216727:A268S|.	A|R	+|+	1|2	0|0	PABPN1;RP11-124D2.2|PABPN1	22863259|22863259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	5.232000|5.232000	0.65332|0.65332	2.581000|2.581000	0.87130|0.87130	0.655000|0.655000	0.94253|0.94253	GCC|CGC		PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643	
CHMP4A	29082	hgsc.bcm.edu	37	14	24680631	24680631	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr14:24680631A>G	ENST00000609024.1	-	3	397	c.349T>C	c.(349-351)Tac>Cac	p.Y117H	AL136419.6_ENST00000565988.1_RNA|CHMP4A_ENST00000347519.6_Missense_Mutation_p.Y160H|CHMP4A_ENST00000542700.2_5'UTR|MDP1_ENST00000532557.1_5'Flank|CHMP4A_ENST00000530996.1_Missense_Mutation_p.Y12H|TM9SF1_ENST00000556387.1_Missense_Mutation_p.Y117H|TM9SF1_ENST00000530611.1_Missense_Mutation_p.Y117H|NEDD8-MDP1_ENST00000604306.1_5'Flank			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A	117	Intramolecular interaction with C- terminus. {ECO:0000250}.				endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		ATGTCCTGGTAGGCCTTCTTC	0.537																																																	0			14											85.0	73.0	77.0					14																	24680631		2203	4300	6503	23750471	SO:0001583	missense	128866			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036	ENST00000609024.1:c.349T>C	14.37:g.24680631A>G	ENSP00000476412:p.Tyr117His	Somatic		Capture	Illumina HiSeq	Phase_I	23750471	Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Missense_Mutation	SNP	ENST00000609024.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.36|14.36	2.511028|2.511028	0.44660|0.44660	.|.	.|.	ENSG00000254505|ENSG00000100926;ENSG00000254692;ENSG00000254505;ENSG00000254505	ENST00000548308|ENST00000556387;ENST00000530611;ENST00000347519;ENST00000533011	.|T;T;T;T	.|0.71222	.|-0.55;-0.55;-0.55;-0.55	4.59|4.59	3.43|3.43	0.39272|0.39272	.|.	.|0.161391	.|0.29493	.|N	.|0.011995	T|T	0.19725|0.19725	0.0474|0.0474	N|N	0.00045|0.00045	-2.45|-2.45	0.32157|0.32157	N|N	0.583435|0.583435	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.002;0.004	T|T	0.46512|0.46512	-0.9186|-0.9186	5|10	.|0.02654	.|T	.|1	-2.9377|-2.9377	4.5213|4.5213	0.11960|0.11960	0.7761:0.0:0.2239:0.0|0.7761:0.0:0.2239:0.0	.|.	.|117;160	.|Q9BY43;Q14D22	.|CHM4A_HUMAN;.	P|H	136|117;117;160;127	.|ENSP00000451949:Y117H;ENSP00000433967:Y117H;ENSP00000324205:Y160H;ENSP00000432575:Y127H	.|ENSP00000324205:Y160H	L|Y	-|-	2|1	0|0	AL096870.1|TM9SF1;AL096870.1;RP11-468E2.1	23750471|23750471	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.766000|5.766000	0.68843|0.68843	1.934000|1.934000	0.56057|0.56057	0.459000|0.459000	0.35465|0.35465	CTA|TAC		CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000471846.1	NM_014169	
RTN1	6252	hgsc.bcm.edu	37	14	60212553	60212553	+	Silent	SNP	G	G	A	rs369834065		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr14:60212553G>A	ENST00000267484.5	-	2	1223	c.888C>T	c.(886-888)acC>acT	p.T296T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	296					neuron differentiation (GO:0030182)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)				central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TCTTCTCTTGGGTAGTGGTTT	0.498																																																	0			14						G		0,4406		0,0,2203	98.0	93.0	95.0		888	2.6	0.0	14		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RTN1	NM_021136.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		296/777	60212553	1,13005	2203	4300	6503	59282306	SO:0001819	synonymous_variant	6252			L10333	CCDS9740.1, CCDS9741.1	14q21-q22	2008-08-29			ENSG00000139970	ENSG00000139970			10467	protein-coding gene	gene with protein product		600865	"""neuroendocrine-specific protein"""	NSP		8275708	Standard	NM_206852		Approved		uc001xen.1	Q16799	OTTHUMG00000028947	ENST00000267484.5:c.888C>T	14.37:g.60212553G>A		Somatic		Capture	Illumina HiSeq	Phase_I	59282306	Q16800|Q16801|Q5BKZ4|Q9BQ59	Silent	SNP	ENST00000267484.5	37	CCDS9740.1																																																																																				RTN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000072278.2		
SYNE2	23224	hgsc.bcm.edu	37	14	64518439	64518439	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr14:64518439T>C	ENST00000344113.4	+	48	8020	c.7808T>C	c.(7807-7809)cTt>cCt	p.L2603P	SYNE2_ENST00000358025.3_Missense_Mutation_p.L2603P|SYNE2_ENST00000554584.1_Missense_Mutation_p.L2636P|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2603					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.L2603P(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTAAGCAACTTGAACATGGT	0.373																																																	1	Substitution - Missense(1)	ovary(1)	14											101.0	95.0	97.0					14																	64518439		1874	4113	5987	63588192	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.7808T>C	14.37:g.64518439T>C	ENSP00000341781:p.Leu2603Pro	Somatic		Capture	Illumina HiSeq	Phase_I	63588192	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	T	6.137	0.393538	0.11638	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.70282	0.63;0.63;-0.47	5.91	4.77	0.60923	.	0.000000	0.52532	D	0.000078	T	0.60715	0.2290	L	0.34521	1.04	0.80722	D	1	B;B	0.32203	0.246;0.36	B;B	0.34385	0.088;0.181	T	0.61574	-0.7035	10	0.72032	D	0.01	.	10.5827	0.45265	0.0:0.0722:0.0:0.9278	.	2603;2603	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	P	2603;2603;2636;2636	ENSP00000350719:L2603P;ENSP00000341781:L2603P;ENSP00000452570:L2636P	ENSP00000261678:L2636P	L	+	2	0	SYNE2	63588192	0.998000	0.40836	0.062000	0.19696	0.101000	0.19017	5.172000	0.65003	1.066000	0.40716	-0.250000	0.11733	CTT		SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
PPP2R5C	5527	hgsc.bcm.edu	37	14	102323093	102323093	+	Silent	SNP	T	T	C	rs61735777	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr14:102323093T>C	ENST00000334743.5	+	2	213	c.165T>C	c.(163-165)ttT>ttC	p.F55F	PPP2R5C_ENST00000445439.3_Silent_p.F55F|PPP2R5C_ENST00000350249.3_Silent_p.F55F|PPP2R5C_ENST00000328724.5_Silent_p.F110F|PPP2R5C_ENST00000422945.2_Silent_p.F86F|PPP2R5C_ENST00000557095.1_Silent_p.F55F	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	55					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.F55F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTTTGACTTTGTTTCTGATC	0.393													T|||	209	0.0417332	0.09	0.0187	5008	,	,		20909	0.0		0.0457	False		,,,				2504	0.0317																1	Substitution - coding silent(1)	breast(1)	14						T	,,,,	407,3999	200.1+/-223.5	19,369,1815	225.0	196.0	206.0		258,330,165,165,165	1.9	1.0	14	dbSNP_129	206	407,8193	129.2+/-187.3	11,385,3904	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PPP2R5C	NM_001161725.1,NM_001161726.1,NM_002719.3,NM_178586.2,NM_178587.2	,,,,	30,754,5719	CC,CT,TT		4.7326,9.2374,6.2586	,,,,	86/556,110/541,55/525,55/486,55/450	102323093	814,12192	2203	4300	6503	101392846	SO:0001819	synonymous_variant	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.165T>C	14.37:g.102323093T>C		Somatic		Capture	Illumina HiSeq	Phase_I	101392846	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Silent	SNP	ENST00000334743.5	37	CCDS9964.1																																																																																				PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414373.2	NM_002719	
SH3GL1	6455	hgsc.bcm.edu	37	19	4362366	4362366	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:4362366T>C	ENST00000269886.3	-	9	1048	c.870A>G	c.(868-870)cgA>cgG	p.R290R	SH3GL1_ENST00000417295.2_Silent_p.R242R|SH3GL1_ENST00000598564.1_Silent_p.R226R|AC007292.6_ENST00000594444.1_RNA	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	290					central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TGTCGGAAGATCGGAAAGACG	0.627			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)			Dom	yes		19	19p13.3	6455	SH3-domain GRB2-like 1 (EEN)		L	0			19											73.0	73.0	73.0					19																	4362366		2203	4300	6503	4313366	SO:0001819	synonymous_variant	6455				CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.870A>G	19.37:g.4362366T>C		Somatic		Capture	Illumina HiSeq	Phase_I	4313366	B4DRA1|E7EVZ4|M0QZV5|Q99668	Silent	SNP	ENST00000269886.3	37	CCDS32874.1																																																																																				SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025	
SMARCA4	6597	hgsc.bcm.edu	37	19	11123640	11123640	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:11123640T>C	ENST00000429416.3	+	17	2571	c.2290T>C	c.(2290-2292)Tgg>Cgg	p.W764R	SMARCA4_ENST00000450717.3_Missense_Mutation_p.W764R|RN7SL192P_ENST00000584303.1_RNA|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000589677.1_Missense_Mutation_p.W764R|SMARCA4_ENST00000358026.2_Missense_Mutation_p.W764R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.W764R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.W764R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.W764R|SMARCA4_ENST00000541122.2_Missense_Mutation_p.W764R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.W764R	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	764					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.W764R(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGTTTGGAGTGGCTGGTGTC	0.592			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	3	Substitution - Missense(2)|Unknown(1)	lung(3)	19											108.0	88.0	95.0					19																	11123640		2203	4300	6503	10984640	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2290T>C	19.37:g.11123640T>C	ENSP00000395654:p.Trp764Arg	Somatic		Capture	Illumina HiSeq	Phase_I	10984640	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.331506	0.81690	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.95518	-3.73;-3.73;-3.73;-3.73;-3.73;-3.73;-3.73	4.73	4.73	0.59995	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.98670	0.9554	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.99184	1.0868	10	0.87932	D	0	-19.8408	13.3423	0.60551	0.0:0.0:0.0:1.0	.	764;764;764;764;764;764;764	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	R	764;764;828;764;764;764;764;764	ENSP00000395654:W764R;ENSP00000350720:W764R;ENSP00000343896:W764R;ENSP00000445036:W764R;ENSP00000392837:W764R;ENSP00000397783:W764R;ENSP00000414727:W764R	ENSP00000343896:W764R	W	+	1	0	SMARCA4	10984640	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.868000	0.87116	1.988000	0.58038	0.533000	0.62120	TGG		SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
JAK3	3718	hgsc.bcm.edu	37	19	17953854	17953854	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:17953854T>C	ENST00000527670.1	-	4	577	c.548A>G	c.(547-549)gAg>gGg	p.E183G	JAK3_ENST00000458235.1_Missense_Mutation_p.E183G|JAK3_ENST00000534444.1_Missense_Mutation_p.E183G|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	183	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with cytokine/interferon/growth hormone receptors. {ECO:0000250}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)	p.E183G(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CTTCAGCAGCTCTCCCGGCCG	0.682		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	19											23.0	24.0	24.0					19																	17953854		2175	4247	6422	17814854	SO:0001583	missense	3718			U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.548A>G	19.37:g.17953854T>C	ENSP00000432511:p.Glu183Gly	Somatic		Capture	Illumina HiSeq	Phase_I	17814854	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736147	0.49045	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.71341	-0.56;-0.56;-0.56	4.92	3.85	0.44370	Band 4.1 domain (1);FERM domain (1);	0.801760	0.11245	N	0.584231	T	0.63260	0.2496	L	0.46741	1.465	0.21627	N	0.999612	P;B;B	0.34724	0.465;0.409;0.265	B;B;B	0.34242	0.178;0.138;0.08	T	0.57213	-0.7850	10	0.52906	T	0.07	-17.1319	9.2695	0.37661	0.1606:0.0:0.0:0.8394	.	183;183;183	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	G	183	ENSP00000391676:E183G;ENSP00000432511:E183G;ENSP00000436421:E183G	ENSP00000413248:E183G	E	-	2	0	JAK3	17814854	0.949000	0.32298	0.086000	0.20670	0.039000	0.13416	5.410000	0.66381	1.866000	0.54105	0.397000	0.26171	GAG		JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
ZNF568	374900	hgsc.bcm.edu	37	19	37440552	37440552	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:37440552C>T	ENST00000333987.7	+	7	1003	c.497C>T	c.(496-498)tCa>tTa	p.S166L	ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000415168.1_Missense_Mutation_p.S102L	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	166					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S166*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCTCTGAGTTCAGACATTGTT	0.343																																																	1	Substitution - Nonsense(1)	ovary(1)	19											89.0	82.0	84.0					19																	37440552		1839	4084	5923	42132392	SO:0001583	missense	374900			BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.497C>T	19.37:g.37440552C>T	ENSP00000334685:p.Ser166Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42132392	B4DS92|E7ER33|Q6N060|Q8NA64	Missense_Mutation	SNP	ENST00000333987.7	37	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	C	9.572	1.121224	0.20877	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	T;T	0.11930	2.73;2.73	4.39	2.2	0.27929	.	0.000000	0.30890	N	0.008675	T	0.12008	0.0292	L	0.46157	1.445	0.20196	N	0.999922	B	0.02656	0.0	B	0.04013	0.001	T	0.19418	-1.0306	10	0.48119	T	0.1	.	9.0015	0.36085	0.0:0.8198:0.0:0.1802	.	166	Q3ZCX4	ZN568_HUMAN	L	166;102	ENSP00000334685:S166L;ENSP00000394514:S102L	ENSP00000334685:S166L	S	+	2	0	ZNF568	42132392	0.024000	0.19004	0.033000	0.17914	0.744000	0.42396	2.547000	0.45786	0.561000	0.29186	0.655000	0.94253	TCA		ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539	
CATSPERG	57828	hgsc.bcm.edu	37	19	38861248	38861248	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:38861248C>T	ENST00000409235.3	+	29	3411	c.3296C>T	c.(3295-3297)aCg>aTg	p.T1099M	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.T1059M	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1099					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						AAGGGCTGCACGATGATCCGG	0.542																																																	0			19											240.0	179.0	200.0					19																	38861248		2203	4300	6503	43553088	SO:0001583	missense	0			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.3296C>T	19.37:g.38861248C>T	ENSP00000386962:p.Thr1099Met	Somatic		Capture	Illumina HiSeq	Phase_I	43553088	A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747547	0.49257	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410	T;T	0.24151	1.88;1.87	5.43	-2.18	0.07037	.	0.709470	0.12700	N	0.446436	T	0.11580	0.0282	N	0.19112	0.55	0.09310	N	0.999999	D;P	0.52996	0.957;0.929	B;B	0.41691	0.364;0.276	T	0.14172	-1.0482	10	0.62326	D	0.03	-12.5893	0.3829	0.00398	0.321:0.2737:0.1572:0.2481	.	1099;1059	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	M	1059;1099;1099	ENSP00000387057:T1059M;ENSP00000386962:T1099M	ENSP00000386962:T1099M	T	+	2	0	CATSPERG	43553088	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.419000	0.07071	-0.770000	0.04614	-0.410000	0.06199	ACG		CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185	
RYR1	6261	hgsc.bcm.edu	37	19	39008158	39008158	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:39008158C>A	ENST00000359596.3	+	66	9845	c.9845C>A	c.(9844-9846)cCc>cAc	p.P3282H	RYR1_ENST00000360985.3_Missense_Mutation_p.P3282H|RYR1_ENST00000355481.4_Missense_Mutation_p.P3282H			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3282					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	AGCTACCTGCCCCGATGGTGG	0.682																																																	0			19											42.0	35.0	37.0					19																	39008158		2203	4299	6502	43699998	SO:0001583	missense	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.9845C>A	19.37:g.39008158C>A	ENSP00000352608:p.Pro3282His	Somatic		Capture	Illumina HiSeq	Phase_I	43699998	Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	10.56	1.385608	0.25031	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985;ENST00000538206	D;D;D	0.91237	-2.81;-2.81;-2.81	3.64	3.64	0.41730	.	0.078945	0.50627	U	0.000101	D	0.94049	0.8093	M	0.75264	2.295	0.48135	D	0.999593	D;D;D	0.71674	0.998;0.998;0.997	P;P;P	0.62740	0.906;0.906;0.808	D	0.94876	0.8034	10	0.72032	D	0.01	.	15.0583	0.71933	0.0:1.0:0.0:0.0	.	3282;3282;3282	P21817-3;P21817-2;P21817	.;.;RYR1_HUMAN	H	3282;3282;3282;202	ENSP00000352608:P3282H;ENSP00000347667:P3282H;ENSP00000354254:P3282H	ENSP00000347667:P3282H	P	+	2	0	RYR1	43699998	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	7.603000	0.82811	1.859000	0.53934	0.205000	0.17691	CCC		RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
PLEKHG2	64857	hgsc.bcm.edu	37	19	39913401	39913401	+	Silent	SNP	C	C	G	rs145859648	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:39913401C>G	ENST00000409794.3	+	18	2557	c.1707C>G	c.(1705-1707)ccC>ccG	p.P569P	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000425673.1_Silent_p.P540P|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000458508.2_Silent_p.P510P	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	569					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCAAGTTCCCCGGAGACTCCC	0.587																																																	0			19											71.0	59.0	63.0					19																	39913401		2203	4300	6503	44605241	SO:0001819	synonymous_variant	64857			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.1707C>G	19.37:g.39913401C>G		Somatic		Capture	Illumina HiSeq	Phase_I	44605241	B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Silent	SNP	ENST00000409794.3	37	CCDS33022.2	.	.	.	.	.	.	.	.	.	.	C	0.280	-0.986944	0.02180	.	.	ENSG00000090924	ENST00000205135	T	0.69806	-0.43	5.43	-10.1	0.00402	.	0.492114	0.17349	N	0.177442	T	0.52980	0.1768	.	.	.	0.19575	N	0.999963	.	.	.	.	.	.	T	0.53265	-0.8463	7	0.87932	D	0	.	5.3799	0.16186	0.105:0.1913:0.1036:0.6001	.	.	.	.	R	437	ENSP00000205135:P437R	ENSP00000205135:P437R	P	+	2	0	PLEKHG2	44605241	0.002000	0.14202	0.003000	0.11579	0.012000	0.07955	-1.273000	0.02823	-1.260000	0.02465	-0.948000	0.02665	CCG		PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326802.1	NM_022835	
PSG3	5671	hgsc.bcm.edu	37	19	43233350	43233350	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:43233350C>T	ENST00000327495.5	-	5	1352	c.1168G>A	c.(1168-1170)Ggg>Agg	p.G390R	PSG3_ENST00000595140.1_Missense_Mutation_p.G390R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	390	Ig-like C2-type 3.				defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.G390W(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GCATAGAGCCCGCTATGCTTT	0.468																																																	1	Substitution - Missense(1)	lung(1)	19											184.0	190.0	188.0					19																	43233350		2203	4300	6503	47925190	SO:0001583	missense	5671				CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1168G>A	19.37:g.43233350C>T	ENSP00000332215:p.Gly390Arg	Somatic		Capture	Illumina HiSeq	Phase_I	47925190	Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	11.34	1.610399	0.28712	.	.	ENSG00000221826	ENST00000327495	T	0.57595	0.39	1.11	1.11	0.20524	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77425	0.4128	H	0.96691	3.865	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.986;1.0	T	0.62914	-0.6753	9	0.87932	D	0	.	5.5059	0.16854	0.0:1.0:0.0:0.0	.	314;390;390	Q08266;P11464-2;Q16557	.;.;PSG3_HUMAN	R	390	ENSP00000332215:G390R	ENSP00000332215:G390R	G	-	1	0	PSG3	47925190	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-0.133000	0.10451	0.549000	0.28973	0.393000	0.25936	GGG		PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016	
PVR	5817	hgsc.bcm.edu	37	19	45162043	45162043	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:45162043G>A	ENST00000425690.3	+	6	1324	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	PVR_ENST00000406449.4_Missense_Mutation_p.R342H|PVR_ENST00000403059.4_Intron|PVR_ENST00000344956.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	342					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCATATCCCGTAACGCCATC	0.468																																																	0			19											167.0	155.0	159.0					19																	45162043		2203	4300	6503	49853883	SO:0001583	missense	5817			BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1025G>A	19.37:g.45162043G>A	ENSP00000402060:p.Arg342His	Somatic		Capture	Illumina HiSeq	Phase_I	49853883	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Missense_Mutation	SNP	ENST00000425690.3	37	CCDS12640.1	.	.	.	.	.	.	.	.	.	.	G	1.842	-0.467115	0.04476	.	.	ENSG00000073008	ENST00000425690;ENST00000406449	D;D	0.87650	-2.25;-2.28	2.85	-5.7	0.02421	.	9.596360	0.00616	U	0.000432	T	0.70535	0.3235	N	0.22421	0.69	0.09310	N	1	B;P	0.35714	0.0;0.517	B;B	0.29353	0.0;0.101	T	0.67440	-0.5670	10	0.19147	T	0.46	.	0.2158	0.00162	0.3367:0.1446:0.233:0.2858	.	342;342	P15151-4;P15151	.;PVR_HUMAN	H	342	ENSP00000402060:R342H;ENSP00000383907:R342H	ENSP00000383907:R342H	R	+	2	0	PVR	49853883	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.469000	0.00460	-2.561000	0.00473	-1.102000	0.02115	CGT		PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000323017.2	NM_006505	
SULT2A1	6822	hgsc.bcm.edu	37	19	48386926	48386926	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:48386926T>A	ENST00000222002.3	-	2	392	c.253A>T	c.(253-255)Aca>Tca	p.T85S		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	85					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.T85A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	CTGAGTGCTGTATACCCAATC	0.527																																																	1	Substitution - Missense(1)	ovary(1)	19											142.0	106.0	118.0					19																	48386926		2203	4300	6503	53078738	SO:0001583	missense	6822			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.253A>T	19.37:g.48386926T>A	ENSP00000222002:p.Thr85Ser	Somatic		Capture	Illumina HiSeq	Phase_I	53078738		Missense_Mutation	SNP	ENST00000222002.3	37	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	T	1.387	-0.581704	0.03854	.	.	ENSG00000105398	ENST00000222002	T	0.01599	4.74	2.83	-4.92	0.03075	Sulfotransferase domain (1);	2.385940	0.01781	N	0.031738	T	0.00936	0.0031	N	0.02345	-0.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48340	-0.9044	10	0.22706	T	0.39	.	7.0836	0.25245	0.0:0.5335:0.1476:0.319	.	85	Q06520	ST2A1_HUMAN	S	85	ENSP00000222002:T85S	ENSP00000222002:T85S	T	-	1	0	SULT2A1	53078738	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.940000	0.01543	-1.299000	0.02344	-0.269000	0.10298	ACA		SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167	
PLEKHA4	57664	hgsc.bcm.edu	37	19	49363681	49363681	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:49363681G>A	ENST00000263265.6	-	6	957	c.402C>T	c.(400-402)gcC>gcT	p.A134A	PLEKHA4_ENST00000355496.5_Silent_p.A134A|PLEKHA4_ENST00000596713.1_5'Flank	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	134	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		AGGTGTCAGCGGCCAAAACGT	0.652																																																	0			19											59.0	60.0	60.0					19																	49363681		2203	4300	6503	54055493	SO:0001819	synonymous_variant	57664			AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.402C>T	19.37:g.49363681G>A		Somatic		Capture	Illumina HiSeq	Phase_I	54055493	Q8N4M8|Q8N658	Silent	SNP	ENST00000263265.6	37	CCDS12737.1																																																																																				PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1		
SIGLEC6	946	hgsc.bcm.edu	37	19	52034594	52034594	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:52034594C>T	ENST00000425629.3	-	2	401	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.E47K|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.E83K|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.E83K|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.E83K	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	83	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACTTCTTCGTCTGGGTCG	0.582																																																	0			19											68.0	73.0	71.0					19																	52034594		2196	4299	6495	56726406	SO:0001583	missense	946			D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.247G>A	19.37:g.52034594C>T	ENSP00000401502:p.Glu83Lys	Somatic		Capture	Illumina HiSeq	Phase_I	56726406	A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	7.332	0.619123	0.14129	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	2.89	-5.78	0.02362	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	3.177270	0.01482	N	0.016736	T	0.28001	0.0690	N	0.02315	-0.6	0.09310	N	1	B;B;B;B;B;B;B	0.09022	0.001;0.002;0.0;0.0;0.001;0.0;0.001	B;B;B;B;B;B;B	0.09377	0.003;0.004;0.004;0.001;0.001;0.002;0.004	T	0.11084	-1.0602	10	0.19590	T	0.45	.	0.4345	0.00476	0.2172:0.2928:0.1999:0.2901	.	83;47;83;83;83;83;83	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	K	72;83;83;83;47;83;83	ENSP00000375674:E83K;ENSP00000401502:E83K;ENSP00000353071:E83K;ENSP00000410679:E47K;ENSP00000345907:E83K	ENSP00000345907:E83K	E	-	1	0	SIGLEC6	56726406	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.186000	0.03070	-1.169000	0.02772	-2.155000	0.00331	GAA		SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
NLRP2	55655	hgsc.bcm.edu	37	19	55493981	55493981	+	Silent	SNP	C	C	T	rs370946962		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:55493981C>T	ENST00000543010.1	+	6	1058	c.915C>T	c.(913-915)tgC>tgT	p.C305C	NLRP2_ENST00000263437.6_Silent_p.C302C|NLRP2_ENST00000427260.2_Silent_p.C282C|NLRP2_ENST00000391721.4_Silent_p.C281C|NLRP2_ENST00000448584.2_Silent_p.C305C|NLRP2_ENST00000537859.1_Silent_p.C283C|NLRP2_ENST00000339757.7_Silent_p.C283C|NLRP2_ENST00000538819.1_Silent_p.C281C	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	305	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGGACATCTGCGGGGACTGGG	0.602																																																	0			19						C	,,,	0,4406		0,0,2203	50.0	49.0	50.0		915,849,846,915	-2.8	0.0	19		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NLRP2	NM_001174081.1,NM_001174082.1,NM_001174083.1,NM_017852.3	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	305/1063,283/1041,282/1040,305/1063	55493981	1,13005	2203	4300	6503	60185793	SO:0001819	synonymous_variant	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.915C>T	19.37:g.55493981C>T		Somatic		Capture	Illumina HiSeq	Phase_I	60185793	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	ENST00000543010.1	37	CCDS12913.1																																																																																				NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1	NM_017852	
SBK2	646643	hgsc.bcm.edu	37	19	56041622	56041622	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:56041622G>A	ENST00000413299.1	-	4	562	c.525C>T	c.(523-525)caC>caT	p.H175H	SBK2_ENST00000344158.3_Silent_p.H175H	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	175	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGCCGCGGGCGTGGATGTACT	0.741																																																	0			19											2.0	3.0	2.0					19																	56041622		1508	3111	4619	60733434	SO:0001819	synonymous_variant	646643				CCDS42631.1	19q13.42	2013-09-27	2013-09-27		ENSG00000187550	ENSG00000187550			34416	protein-coding gene	gene with protein product			"""SH3-binding domain kinase family, member 2"""				Standard	NM_001101401		Approved	SGK069	uc010ygc.2	P0C263	OTTHUMG00000155830	ENST00000413299.1:c.525C>T	19.37:g.56041622G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60733434		Silent	SNP	ENST00000413299.1	37	CCDS42631.1																																																																																				SBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341919.1	NM_001101401	
ZNF667	63934	hgsc.bcm.edu	37	19	56953450	56953450	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:56953450C>G	ENST00000504904.3	-	7	1633	c.914G>C	c.(913-915)gGa>gCa	p.G305A	ZNF667_ENST00000292069.6_Missense_Mutation_p.G305A|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G433A			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GATTTTCTCTCCAGCATGAAT	0.333																																																	0			19											87.0	91.0	90.0					19																	56953450		2200	4300	6500	61645262	SO:0001583	missense	63934				CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.914G>C	19.37:g.56953450C>G	ENSP00000439402:p.Gly305Ala	Somatic		Capture	Illumina HiSeq	Phase_I	61645262	B2RMS6|B9EK36|Q6B093|Q9H807	Missense_Mutation	SNP	ENST00000504904.3	37	CCDS12944.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723401	0.30503	.	.	ENSG00000198046	ENST00000342634;ENST00000504904;ENST00000292069;ENST00000452518	T;T;T	0.05025	3.51;3.55;3.55	4.96	3.94	0.45596	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.162786	0.29348	N	0.012410	T	0.11067	0.0270	M	0.69823	2.125	0.32667	N	0.517304	P;P	0.52316	0.952;0.914	P;B	0.44422	0.449;0.43	T	0.14868	-1.0457	10	0.62326	D	0.03	-6.1867	10.9162	0.47137	0.0:0.9089:0.0:0.0911	.	433;305	E7EPS0;Q5HYK9	.;ZN667_HUMAN	A	433;305;305;87	ENSP00000344699:G433A;ENSP00000439402:G305A;ENSP00000292069:G305A	ENSP00000292069:G305A	G	-	2	0	ZNF667	61645262	0.034000	0.19679	0.887000	0.34795	0.354000	0.29330	0.787000	0.26858	1.323000	0.45263	0.591000	0.81541	GGA		ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
PEG3	5178	hgsc.bcm.edu	37	19	57325432	57325432	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:57325432C>A	ENST00000326441.9	-	10	4741	c.4378G>T	c.(4378-4380)Gac>Tac	p.D1460Y	PEG3_ENST00000593695.1_Missense_Mutation_p.D1334Y|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1460Y|PEG3_ENST00000598410.1_Missense_Mutation_p.D1336Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1460	Glu-rich.				apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D1460N(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCTTCTGGGTCTTCAATACCT	0.562																																																	1	Substitution - Missense(1)	ovary(1)	19											111.0	101.0	104.0					19																	57325432		2203	4300	6503	62017244	SO:0001583	missense	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.4378G>T	19.37:g.57325432C>A	ENSP00000326581:p.Asp1460Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	62017244	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650694	0.67472	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	4.07	4.07	0.47477	.	0.000000	0.47852	D	0.000210	T	0.06781	0.0173	L	0.27053	0.805	.	.	.	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.65573	0.936;0.936;0.936	T	0.24297	-1.0164	9	0.62326	D	0.03	-33.8222	12.0647	0.53581	0.0:1.0:0.0:0.0	.	1336;1460;1395	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	1460	ENSP00000326581:D1460Y;ENSP00000403051:D1460Y	ENSP00000326581:D1460Y	D	-	1	0	ZIM2	62017244	0.961000	0.32948	1.000000	0.80357	0.929000	0.56500	2.188000	0.42612	2.555000	0.86185	0.650000	0.86243	GAC		PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
SOX7	83595	hgsc.bcm.edu	37	8	10584033	10584033	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:10584033G>A	ENST00000304501.1	-	2	460	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	SOX7_ENST00000554914.1_Missense_Mutation_p.R180C|SOX7_ENST00000553390.1_Missense_Mutation_p.R180C|CTD-2135J3.3_ENST00000506149.2_RNA	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	128					endoderm formation (GO:0001706)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|regulation of canonical Wnt signaling pathway (GO:0060828)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTCCACGCGCTTGCACAGC	0.687																																																	0			8											30.0	35.0	33.0					8																	10584033		2203	4300	6503	10621443	SO:0001583	missense	83595			AJ409320	CCDS5977.1	8p22	2013-01-25			ENSG00000171056	ENSG00000171056		"""SRY (sex determining region Y)-boxes"""	18196	protein-coding gene	gene with protein product		612202				11691915	Standard	NM_031439		Approved		uc003wtf.3	Q9BT81	OTTHUMG00000090585	ENST00000304501.1:c.382C>T	8.37:g.10584033G>A	ENSP00000301921:p.Arg128Cys	Somatic		Capture	Illumina HiSeq	Phase_I	10621443	B4DKV0|Q53YD0	Missense_Mutation	SNP	ENST00000304501.1	37	CCDS5977.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207424	0.79240	.	.	ENSG00000171056;ENSG00000171056;ENSG00000258724	ENST00000304501;ENST00000553390;ENST00000554914	D;D;D	0.99607	-5.33;-6.27;-6.27	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.99551	0.9839	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	D	0.98030	1.0376	10	0.87932	D	0	.	16.5561	0.84485	0.0:0.0:1.0:0.0	.	180;128	B4DKV0;Q9BT81	.;SOX7_HUMAN	C	128;180;180	ENSP00000301921:R128C;ENSP00000452017:R180C;ENSP00000451145:R180C	ENSP00000346908:R180C	R	-	1	0	SOX7;CTD-2135J3.4	10621443	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.925000	0.63425	2.368000	0.80403	0.561000	0.74099	CGC		SOX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207131.1		
CHRNA6	8973	hgsc.bcm.edu	37	8	42611803	42611803	+	Missense_Mutation	SNP	G	G	A	rs200478711		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:42611803G>A	ENST00000276410.2	-	5	894	c.539C>T	c.(538-540)aCg>aTg	p.T180M	CHRNA6_ENST00000530869.1_5'Flank|CHRNA6_ENST00000534622.1_Missense_Mutation_p.T165M	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	180					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	TTTGTCATACGTCCAGGAACC	0.388																																																	0			8											119.0	117.0	117.0					8																	42611803		2203	4300	6503	42730960	SO:0001583	missense	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.539C>T	8.37:g.42611803G>A	ENSP00000276410:p.Thr180Met	Somatic		Capture	Illumina HiSeq	Phase_I	42730960	B2R8V4|B4DQH1	Missense_Mutation	SNP	ENST00000276410.2	37	CCDS6135.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675962	0.88445	.	.	ENSG00000147434	ENST00000276410;ENST00000534622;ENST00000533810	T;T;T	0.80824	-1.42;-1.42;-1.42	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel ligand-binding (3);	0.139070	0.64402	D	0.000003	D	0.92724	0.7687	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93471	0.6819	10	0.87932	D	0	.	20.4043	0.99006	0.0:0.0:1.0:0.0	.	165;180	B4DQH1;Q15825	.;ACHA6_HUMAN	M	180;165;101	ENSP00000276410:T180M;ENSP00000433871:T165M;ENSP00000434659:T101M	ENSP00000276410:T180M	T	-	2	0	CHRNA6	42730960	1.000000	0.71417	0.947000	0.38551	0.988000	0.76386	9.773000	0.98989	2.824000	0.97209	0.650000	0.86243	ACG		CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383156.1		
ASPH	444	hgsc.bcm.edu	37	8	62415977	62415977	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:62415977C>T	ENST00000379454.4	-	25	2405	c.2218G>A	c.(2218-2220)Gtg>Atg	p.V740M	ASPH_ENST00000541428.1_Missense_Mutation_p.V711M	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	740					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CACACATCCACGATGAATATC	0.527																																																	0			8											121.0	90.0	100.0					8																	62415977		2203	4300	6503	62578531	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2218G>A	8.37:g.62415977C>T	ENSP00000368767:p.Val740Met	Somatic		Capture	Illumina HiSeq	Phase_I	62578531	A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101518	0.94245	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.46451	0.87;0.87	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.974;1.0	T	0.67158	-0.5741	10	0.62326	D	0.03	-18.4067	19.6961	0.96026	0.0:1.0:0.0:0.0	.	711;740	F5H667;Q12797	.;ASPH_HUMAN	M	711;740	ENSP00000437864:V711M;ENSP00000368767:V740M	ENSP00000368767:V740M	V	-	1	0	ASPH	62578531	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.294000	0.78760	2.745000	0.94114	0.650000	0.86243	GTG		ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318	
PRDM14	63978	hgsc.bcm.edu	37	8	70982042	70982042	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:70982042C>T	ENST00000276594.2	-	2	255	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	18					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGCTCTCCGGCGGGTAGCACA	0.657																																					NSCLC(129;99 1813 5906 40656 46114)												0			8											15.0	18.0	17.0					8																	70982042		2198	4298	6496	71144596	SO:0001819	synonymous_variant	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.54G>A	8.37:g.70982042C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71144596	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																				PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
ZFHX4	79776	hgsc.bcm.edu	37	8	77761833	77761833	+	Missense_Mutation	SNP	C	C	A	rs369863550		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:77761833C>A	ENST00000521891.2	+	8	4179	c.3731C>A	c.(3730-3732)cCg>cAg	p.P1244Q	ZFHX4_ENST00000050961.6_Missense_Mutation_p.P1199Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P1199Q|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P1218Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCGGTGCAGCCGGTCATCTGC	0.473										HNSCC(33;0.089)																																							0			8											127.0	122.0	124.0					8																	77761833		2039	4206	6245	77924388	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3731C>A	8.37:g.77761833C>A	ENSP00000430497:p.Pro1244Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77924388	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827414	0.71143	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.55052	0.54;0.66;0.61;0.58	4.58	4.58	0.56647	.	0.000000	0.41938	U	0.000791	T	0.74596	0.3737	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.79184	-0.1908	10	0.87932	D	0	.	17.9143	0.88944	0.0:1.0:0.0:0.0	.	1199;1199;1244	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	Q	1244;1244;1199;1199;1218	ENSP00000430497:P1244Q;ENSP00000399605:P1199Q;ENSP00000050961:P1199Q;ENSP00000430848:P1218Q	ENSP00000050961:P1199Q	P	+	2	0	ZFHX4	77924388	1.000000	0.71417	0.957000	0.39632	0.992000	0.81027	7.609000	0.82925	2.524000	0.85096	0.555000	0.69702	CCG		ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
RIMS2	9699	hgsc.bcm.edu	37	8	104955049	104955049	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:104955049T>C	ENST00000436393.2	+	12	2171	c.1930T>C	c.(1930-1932)Tac>Cac	p.Y644H	RIMS2_ENST00000406091.3_Missense_Mutation_p.Y866H|RIMS2_ENST00000262231.10_Missense_Mutation_p.Y705H|RIMS2_ENST00000507740.1_Missense_Mutation_p.Y658H			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	928					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCCACATTGGTACAAACTTCA	0.403										HNSCC(12;0.0054)																																							0			8											77.0	73.0	74.0					8																	104955049		1889	4118	6007	105024225	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1930T>C	8.37:g.104955049T>C	ENSP00000390665:p.Tyr644His	Somatic		Capture	Illumina HiSeq	Phase_I	105024225	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37		.	.	.	.	.	.	.	.	.	.	T	21.5	4.154139	0.78114	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.18	5.17	5.17	0.71159	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.86087	0.5849	L	0.61387	1.9	0.80722	D	1	P;P;D;D;D;D	0.76494	0.689;0.823;0.996;0.998;0.999;0.999	P;D;D;D;D;D	0.91635	0.851;0.91;0.999;0.996;0.999;0.999	D	0.86773	0.1974	9	0.52906	T	0.07	.	15.3133	0.74053	0.0:0.0:0.0:1.0	.	928;928;644;705;658;866	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	H	866;881;866;928;658;705;658;658;644	ENSP00000427018:Y866H;ENSP00000384892:Y866H;ENSP00000425205:Y658H;ENSP00000262231:Y705H;ENSP00000423559:Y658H;ENSP00000386228:Y658H;ENSP00000390665:Y644H	ENSP00000262231:Y705H	Y	+	1	0	RIMS2	105024225	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.948000	0.87774	2.064000	0.61679	0.482000	0.46254	TAC		RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
COL14A1	7373	hgsc.bcm.edu	37	8	121309824	121309824	+	Silent	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:121309824C>A	ENST00000297848.3	+	35	4581	c.4311C>A	c.(4309-4311)ggC>ggA	p.G1437G	COL14A1_ENST00000309791.4_Silent_p.G1437G|COL14A1_ENST00000247781.3_Silent_p.G1342G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1									p.G1437G(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACTTCCAGGCCTGGTAAGAA	0.323																																																	1	Substitution - coding silent(1)	ovary(1)	8											66.0	62.0	63.0					8																	121309824		2203	4298	6501	121379005	SO:0001819	synonymous_variant	7373				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.4311C>A	8.37:g.121309824C>A		Somatic		Capture	Illumina HiSeq	Phase_I	121379005		Silent	SNP	ENST00000297848.3	37	CCDS34938.1																																																																																				COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
ZFAT	57623	hgsc.bcm.edu	37	8	135521987	135521987	+	Nonsense_Mutation	SNP	G	G	A	rs200421725		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr8:135521987G>A	ENST00000377838.3	-	15	3541	c.3367C>T	c.(3367-3369)Cga>Tga	p.R1123*	ZFAT_ENST00000520727.1_Nonsense_Mutation_p.R1111*|ZFAT_ENST00000520214.1_Nonsense_Mutation_p.R1111*|ZFAT_ENST00000523399.1_Nonsense_Mutation_p.R1061*|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000429442.2_Nonsense_Mutation_p.R1111*|ZFAT_ENST00000517307.1_5'Flank	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1123					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R1123*(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGGTCCAGTCGGTCGCCTTAA	0.597													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14795	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Nonsense(1)	kidney(1)	8											98.0	102.0	101.0					8																	135521987		2085	4205	6290	135591169	SO:0001587	stop_gained	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.3367C>T	8.37:g.135521987G>A	ENSP00000367069:p.Arg1123*	Somatic		Capture	Illumina HiSeq	Phase_I	135591169	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Nonsense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	16.89	3.248084	0.59103	.	.	ENSG00000066827	ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000521673;ENST00000318135;ENST00000523399	.	.	.	5.67	3.66	0.41972	.	0.294097	0.33477	N	0.004878	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9944	9.0481	0.36358	0.0:0.0981:0.5162:0.3856	.	.	.	.	X	1111;1111;1123;1111;43;1010;1061	.	ENSP00000326997:R1010X	R	-	1	2	ZFAT	135591169	1.000000	0.71417	0.988000	0.46212	0.373000	0.29922	2.283000	0.43470	0.677000	0.31305	0.557000	0.71058	CGA		ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
CCDC27	148870	hgsc.bcm.edu	37	1	3683865	3683865	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:3683865C>T	ENST00000294600.2	+	10	1683	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	533										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		ACACCAAGGTCAGCCAGCTGC	0.567																																																	0			1											56.0	55.0	55.0					1																	3683865		2203	4300	6503	3673725	SO:0001819	synonymous_variant	148870				CCDS50.1	1p36.32	2008-02-05			ENSG00000162592	ENSG00000162592			26546	protein-coding gene	gene with protein product							Standard	NM_152492		Approved	FLJ32825	uc001akv.2	Q2M243	OTTHUMG00000003504	ENST00000294600.2:c.1599C>T	1.37:g.3683865C>T		Somatic		Capture	Illumina HiSeq	Phase_I	3673725	Q5TBV3|Q96M50	Silent	SNP	ENST00000294600.2	37	CCDS50.1																																																																																				CCDC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009740.1	NM_152492	
PTCHD2	57540	hgsc.bcm.edu	37	1	11561700	11561700	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:11561700G>T	ENST00000294484.6	+	2	789	c.651G>T	c.(649-651)caG>caT	p.Q217H	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Q217H	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	217					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)	p.Q434H(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGCCAACCAGAGTGAAGACC	0.682																																																	1	Substitution - Missense(1)	breast(1)	1											10.0	14.0	13.0					1																	11561700		1983	4138	6121	11484287	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.651G>T	1.37:g.11561700G>T	ENSP00000294484:p.Gln217His	Somatic		Capture	Illumina HiSeq	Phase_I	11484287	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.585420	0.46110	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.25250	1.81;1.81	5.07	4.16	0.48862	.	1.017510	0.07948	U	0.980425	T	0.14356	0.0347	N	0.08118	0	0.24671	N	0.993416	P	0.41041	0.736	B	0.38712	0.28	T	0.11842	-1.0571	10	0.33940	T	0.23	-17.3318	7.9752	0.30151	0.1865:0.0:0.8135:0.0	.	217	Q9P2K9	PTHD2_HUMAN	H	217	ENSP00000294484:Q217H;ENSP00000374226:Q217H	ENSP00000294484:Q217H	Q	+	3	2	PTCHD2	11484287	0.005000	0.15991	0.780000	0.31762	0.413000	0.31143	0.722000	0.25925	1.146000	0.42352	0.491000	0.48974	CAG		PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
PTCHD2	57540	hgsc.bcm.edu	37	1	11562804	11562804	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:11562804A>T	ENST00000294484.6	+	3	1304	c.1166A>T	c.(1165-1167)aAt>aTt	p.N389I	PTCHD2_ENST00000389575.3_Missense_Mutation_p.N389I	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	389					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCTGCAGACAATCTGAAGAGC	0.577																																																	0			1											69.0	70.0	69.0					1																	11562804		1952	4159	6111	11485391	SO:0001583	missense	57540			AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1166A>T	1.37:g.11562804A>T	ENSP00000294484:p.Asn389Ile	Somatic		Capture	Illumina HiSeq	Phase_I	11485391	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474520	0.84640	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.27256	1.68;1.68	6.08	6.08	0.98989	.	0.102011	0.64402	D	0.000003	T	0.31009	0.0783	L	0.27053	0.805	0.48452	D	0.999656	D	0.55800	0.973	P	0.52909	0.713	T	0.03268	-1.1054	10	0.62326	D	0.03	-34.3021	15.4678	0.75416	1.0:0.0:0.0:0.0	.	389	Q9P2K9	PTHD2_HUMAN	I	389	ENSP00000294484:N389I;ENSP00000374226:N389I	ENSP00000294484:N389I	N	+	2	0	PTCHD2	11485391	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.164000	0.58190	2.333000	0.79357	0.533000	0.62120	AAT		PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561	
FBXO44	93611	hgsc.bcm.edu	37	1	11718862	11718862	+	Silent	SNP	G	G	A	rs376358727		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:11718862G>A	ENST00000251547.5	+	5	640	c.558G>A	c.(556-558)gcG>gcA	p.A186A	FBXO44_ENST00000251546.4_Missense_Mutation_p.A145T|FBXO44_ENST00000376770.1_Silent_p.A186A|FBXO44_ENST00000376768.1_Missense_Mutation_p.A177T|FBXO44_ENST00000376760.1_Missense_Mutation_p.A145T|FBXO44_ENST00000376762.4_Missense_Mutation_p.A145T	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	186	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCGCGCACGCGCCTCTGGGGA	0.682													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14143	0.0		0.0	False		,,,				2504	0.0																0			1						G	,,THR/ALA,THR/ALA	0,4406		0,0,2203	57.0	57.0	57.0		558,558,433,433	-7.1	0.1	1		57	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,missense,missense	FBXO44	NM_001014765.1,NM_033182.5,NM_183412.2,NM_183413.2	,,58,58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,,	186/256,186/256,145/225,145/225	11718862	2,13004	2203	4300	6503	11641449	SO:0001819	synonymous_variant	93611			AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.558G>A	1.37:g.11718862G>A		Somatic		Capture	Illumina HiSeq	Phase_I	11641449	B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	ENST00000251547.5	37	CCDS132.1	.	.	.	.	.	.	.	.	.	.	G	0.016	-1.514669	0.00975	0.0	2.33E-4	ENSG00000132879	ENST00000251546;ENST00000425796;ENST00000376768;ENST00000376762;ENST00000376760	T;T;T;T;T	0.42513	0.97;1.21;1.14;0.97;0.97	5.01	-7.09	0.01553	.	1.846850	0.02431	N	0.083549	T	0.19287	0.0463	.	.	.	0.22940	N	0.99854	B;B	0.06786	0.001;0.001	B;B	0.06405	0.001;0.002	T	0.32188	-0.9916	9	0.07644	T	0.81	-25.2619	10.4287	0.44393	0.1568:0.241:0.6022:0.0	.	177;145	B7Z1P2;Q9H4M3-2	.;.	T	145;145;177;145;145	ENSP00000251546:A145T;ENSP00000389820:A145T;ENSP00000365959:A177T;ENSP00000365953:A145T;ENSP00000365951:A145T	ENSP00000251546:A145T	A	+	1	0	FBXO44	11641449	0.000000	0.05858	0.134000	0.22075	0.120000	0.20174	-2.277000	0.01160	-1.244000	0.02516	-0.350000	0.07774	GCC		FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005761.1	NM_183412	
DNAJC16	23341	hgsc.bcm.edu	37	1	15863099	15863099	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:15863099G>A	ENST00000375847.3	+	4	528	c.364G>A	c.(364-366)Gat>Aat	p.D122N	DNAJC16_ENST00000375849.1_Missense_Mutation_p.D122N|DNAJC16_ENST00000375838.1_Missense_Mutation_p.D122N	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	122	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTTTATTTTGATGAATCCTT	0.403																																																	0			1											90.0	97.0	95.0					1																	15863099		2203	4300	6503	15735686	SO:0001583	missense	23341			AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.364G>A	1.37:g.15863099G>A	ENSP00000365007:p.Asp122Asn	Somatic		Capture	Illumina HiSeq	Phase_I	15735686	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.040898	0.75732	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.72942	-0.7;-0.7;-0.7	5.62	5.62	0.85841	Thioredoxin-like fold (1);	0.092055	0.64402	D	0.000001	T	0.70465	0.3227	L	0.44542	1.39	0.39520	D	0.968496	P;P	0.47191	0.891;0.891	P;P	0.46452	0.517;0.517	T	0.70680	-0.4805	10	0.39692	T	0.17	-23.2059	18.587	0.91194	0.0:0.0:1.0:0.0	.	122;122	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	N	122	ENSP00000365007:D122N;ENSP00000364998:D122N;ENSP00000365009:D122N	ENSP00000364998:D122N	D	+	1	0	DNAJC16	15735686	1.000000	0.71417	0.942000	0.38095	0.833000	0.47200	8.540000	0.90641	2.809000	0.96659	0.655000	0.94253	GAT		DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291	
LYPLA2	11313	hgsc.bcm.edu	37	1	24120368	24120368	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:24120368G>A	ENST00000374514.3	+	6	550	c.243G>A	c.(241-243)ctG>ctA	p.L81L	LYPLA2_ENST00000374501.1_Silent_p.L14L|LYPLA2_ENST00000400061.1_Silent_p.L81L|LYPLA2_ENST00000374503.3_Silent_p.L81L|LYPLA2_ENST00000495365.1_Intron|LYPLA2_ENST00000374502.3_Silent_p.L81L|LYPLA2_ENST00000374505.2_Silent_p.L81L	NM_007260.2	NP_009191.1	O95372	LYPA2_HUMAN	lysophospholipase II	81					fatty acid metabolic process (GO:0006631)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TGATGGGGCTGAGTCCAGATG	0.627																																																	0			1											96.0	99.0	98.0					1																	24120368		2203	4300	6503	23992955	SO:0001819	synonymous_variant	11313			AF098668	CCDS241.1	1p36.11	2008-08-08			ENSG00000011009	ENSG00000011009	3.1.1.5		6738	protein-coding gene	gene with protein product							Standard	NM_007260		Approved	APT-2	uc001bht.3	O95372	OTTHUMG00000002961	ENST00000374514.3:c.243G>A	1.37:g.24120368G>A		Somatic		Capture	Illumina HiSeq	Phase_I	23992955	Q7Z4Z2	Silent	SNP	ENST00000374514.3	37	CCDS241.1																																																																																				LYPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008245.1		
ARID1A	8289	hgsc.bcm.edu	37	1	27057935	27057935	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:27057935A>G	ENST00000324856.7	+	3	2014	c.1643A>G	c.(1642-1644)cAg>cGg	p.Q548R	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q165R|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q548R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	548					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCCCAGAGCCAGCCCCCCTAC	0.647			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0			1											171.0	181.0	177.0					1																	27057935		2203	4300	6503	26930522	SO:0001583	missense	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1643A>G	1.37:g.27057935A>G	ENSP00000320485:p.Gln548Arg	Somatic		Capture	Illumina HiSeq	Phase_I	26930522	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	CCDS285.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.099407	0.37048	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152	T;T;T	0.02656	4.45;4.21;4.24	5.44	5.44	0.79542	.	0.145657	0.47093	D	0.000260	T	0.02494	0.0076	L	0.27053	0.805	0.80722	D	1	B;B;B	0.18461	0.016;0.028;0.016	B;B;B	0.14578	0.005;0.011;0.008	T	0.53049	-0.8493	10	0.12766	T	0.61	-6.7819	11.6267	0.51149	0.8516:0.1484:0.0:0.0	.	548;548;202	O14497;O14497-2;Q4LE49	ARI1A_HUMAN;.;.	R	548;548;165	ENSP00000320485:Q548R;ENSP00000387636:Q548R;ENSP00000363267:Q165R	ENSP00000320485:Q548R	Q	+	2	0	ARID1A	26930522	1.000000	0.71417	1.000000	0.80357	0.251000	0.25915	3.928000	0.56506	2.278000	0.76064	0.533000	0.62120	CAG		ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
WASF2	10163	hgsc.bcm.edu	37	1	27739086	27739086	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:27739086A>G	ENST00000430629.2	-	7	1019	c.804T>C	c.(802-804)ccT>ccC	p.P268P	WASF2_ENST00000536657.1_Silent_p.P268P	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	268	Poly-Pro.				actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CTGGTGGAGGAGGCAAGTTGT	0.488																																																	0			1											183.0	160.0	168.0					1																	27739086		2203	4300	6503	27611673	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.804T>C	1.37:g.27739086A>G		Somatic		Capture	Illumina HiSeq	Phase_I	27611673	B4DZN0|O60794|Q9UDY7	Silent	SNP	ENST00000430629.2	37	CCDS304.1																																																																																				WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1	NM_006990	
CSMD2	114784	hgsc.bcm.edu	37	1	34076686	34076686	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:34076686T>C	ENST00000373380.1	-	20	3137	c.2917A>G	c.(2917-2919)Agc>Ggc	p.S973G	CSMD2_ENST00000373377.1_Missense_Mutation_p.S199G|CSMD2_ENST00000373388.2_Missense_Mutation_p.S199G|CSMD2_ENST00000373381.4_Missense_Mutation_p.S2100G			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2060	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGTGGTCGCTGTGGAAATAC	0.562																																																	0			1											120.0	101.0	108.0					1																	34076686		2203	4300	6503	33849273	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2917A>G	1.37:g.34076686T>C	ENSP00000362478:p.Ser973Gly	Somatic		Capture	Illumina HiSeq	Phase_I	33849273	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373380.1	37		.	.	.	.	.	.	.	.	.	.	T	26.5	4.741121	0.89573	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.26	5.26	0.73747	CUB (5);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	H	0.99454	4.575	0.58432	D	0.999998	D;D;D	0.76494	0.987;0.999;0.999	D;D;D	0.91635	0.992;0.999;0.999	D	0.88549	0.3115	10	0.87932	D	0	.	14.3657	0.66805	0.0:0.0:0.0:1.0	.	973;2060;2100	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	G	2100;973;199;199	ENSP00000362479:S2100G;ENSP00000362478:S973G;ENSP00000362475:S199G;ENSP00000362486:S199G	ENSP00000241312:S2060G	S	-	1	0	CSMD2	33849273	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.967000	0.87967	1.999000	0.58509	0.459000	0.35465	AGC		CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
ZMYM4	9202	hgsc.bcm.edu	37	1	35853091	35853091	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:35853091G>A	ENST00000314607.6	+	13	2229	c.2149G>A	c.(2149-2151)Gat>Aat	p.D717N	ZMYM4_ENST00000373297.2_Missense_Mutation_p.D628N	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	717					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D717N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAATTGTTCTGATGAATATAA	0.318																																																	1	Substitution - Missense(1)	ovary(1)	1											66.0	73.0	70.0					1																	35853091		2203	4300	6503	35625678	SO:0001583	missense	9202			AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2149G>A	1.37:g.35853091G>A	ENSP00000322915:p.Asp717Asn	Somatic		Capture	Illumina HiSeq	Phase_I	35625678	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	37	CCDS389.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.691074	0.88735	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25579	1.79;1.89	5.36	5.36	0.76844	TRASH (1);Zinc finger, MYM-type (1);	0.320878	0.32836	N	0.005589	T	0.49201	0.1543	M	0.70275	2.135	0.50632	D	0.99988	D	0.69078	0.997	D	0.67548	0.952	T	0.34129	-0.9841	10	0.26408	T	0.33	-17.0785	18.0677	0.89396	0.0:0.0:1.0:0.0	.	717	Q5VZL5	ZMYM4_HUMAN	N	717;628	ENSP00000322915:D717N;ENSP00000362394:D628N	ENSP00000322915:D717N	D	+	1	0	ZMYM4	35625678	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.189000	0.77747	2.498000	0.84270	0.655000	0.94253	GAT		ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
YBX1	4904	hgsc.bcm.edu	37	1	43162405	43162405	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:43162405A>G	ENST00000321358.7	+	5	586	c.447A>G	c.(445-447)ccA>ccG	p.P149P	YBX1_ENST00000467957.1_3'UTR	NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	149					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACGCTATCCACGTCGTAGGG	0.517																																																	0			1											76.0	78.0	77.0					1																	43162405		2203	4300	6503	42934992	SO:0001819	synonymous_variant	4904			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.447A>G	1.37:g.43162405A>G		Somatic		Capture	Illumina HiSeq	Phase_I	42934992	P16990|P16991|Q14972|Q15325|Q5FVF0	Silent	SNP	ENST00000321358.7	37	CCDS470.1	.	.	.	.	.	.	.	.	.	.	A	9.671	1.146761	0.21288	.	.	ENSG00000065978	ENST00000436427	.	.	.	5.24	4.11	0.48088	.	.	.	.	.	T	0.54515	0.1863	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52503	-0.8567	4	.	.	.	-1.9726	6.0795	0.19933	0.8169:0.0:0.1831:0.0	.	.	.	.	R	199	.	.	H	+	2	0	YBX1	42934992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.387000	0.34430	2.101000	0.63845	0.460000	0.39030	CAC		YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019786.2	NM_004559	
TIE1	7075	hgsc.bcm.edu	37	1	43778930	43778930	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:43778930T>C	ENST00000372476.3	+	13	2131	c.2052T>C	c.(2050-2052)gcT>gcC	p.A684A	TIE1_ENST00000433781.2_Silent_p.A329A	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	684	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCAGGTGGCTGGGGGTGCAG	0.622																																																	0			1											127.0	97.0	107.0					1																	43778930		2203	4300	6503	43551517	SO:0001819	synonymous_variant	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2052T>C	1.37:g.43778930T>C		Somatic		Capture	Illumina HiSeq	Phase_I	43551517	B5A949|B5A950	Silent	SNP	ENST00000372476.3	37	CCDS482.1																																																																																				TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
KIF2C	11004	hgsc.bcm.edu	37	1	45228107	45228107	+	Missense_Mutation	SNP	C	C	T	rs199917085		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:45228107C>T	ENST00000372224.4	+	18	1954	c.1841C>T	c.(1840-1842)gCg>gTg	p.A614V	RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A501V|KIF2C_ENST00000372218.4_Missense_Mutation_p.A573V|KIF2C_ENST00000372217.1_Missense_Mutation_p.A560V	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	614					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)	p.A614V(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCTAACGGGGCGCTGATTCCA	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		20268	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)	1											65.0	66.0	66.0					1																	45228107		2203	4300	6503	45000694	SO:0001583	missense	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.1841C>T	1.37:g.45228107C>T	ENSP00000361298:p.Ala614Val	Somatic		Capture	Illumina HiSeq	Phase_I	45000694	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	C	9.678	1.148626	0.21288	.	.	ENSG00000142945	ENST00000372224;ENST00000372218;ENST00000372222;ENST00000372217	T;T;T;T	0.74842	-0.87;-0.71;-0.88;-0.88	6.08	3.14	0.36123	.	1.181470	0.06017	N	0.650594	T	0.54532	0.1864	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.41466	-0.9507	10	0.29301	T	0.29	.	6.2177	0.20663	0.2642:0.5954:0.0:0.1404	.	573;560;614	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	V	614;573;501;560	ENSP00000361298:A614V;ENSP00000361292:A573V;ENSP00000361296:A501V;ENSP00000361291:A560V	ENSP00000361291:A560V	A	+	2	0	KIF2C	45000694	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.502000	0.22594	0.421000	0.25980	-0.169000	0.13324	GCG		KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	
TOE1	114034	hgsc.bcm.edu	37	1	45808078	45808078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:45808078C>A	ENST00000372090.5	+	6	1098	c.515C>A	c.(514-516)tCa>tAa	p.S172*	MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000372098.3_5'Flank|TOE1_ENST00000539779.1_Nonsense_Mutation_p.S92*|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000372115.3_5'Flank|TESK2_ENST00000486676.1_5'Flank|MUTYH_ENST00000372110.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	172						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					CAGAGCCAGTCAGTACGGACC	0.547																																																	0			1											95.0	98.0	97.0					1																	45808078		2203	4300	6503	45580665	SO:0001587	stop_gained	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.515C>A	1.37:g.45808078C>A	ENSP00000361162:p.Ser172*	Somatic		Capture	Illumina HiSeq	Phase_I	45580665	B4DEM6|Q6IA35|Q8IWN5|Q9H846	Nonsense_Mutation	SNP	ENST00000372090.5	37	CCDS521.1	.	.	.	.	.	.	.	.	.	.	C	39	7.536756	0.98345	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	.	.	.	5.79	4.83	0.62350	.	0.487580	0.23468	N	0.047846	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.9134	17.4089	0.87480	0.0:0.7993:0.2007:0.0	.	.	.	.	X	172;92	.	ENSP00000361162:S172X	S	+	2	0	TOE1	45580665	0.688000	0.27680	1.000000	0.80357	0.928000	0.56348	0.426000	0.21363	2.733000	0.93635	0.655000	0.94253	TCA		TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1	NM_025077	
INADL	10207	hgsc.bcm.edu	37	1	62321734	62321734	+	Silent	SNP	G	G	A	rs41289422	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:62321734G>A	ENST00000371158.2	+	18	2259	c.2145G>A	c.(2143-2145)gtG>gtA	p.V715V	INADL_ENST00000316485.6_Silent_p.V715V	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	715	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGTGATTGTGATCCGCTCCC	0.468																																																	0			1											110.0	107.0	108.0					1																	62321734		2203	4300	6503	62094322	SO:0001819	synonymous_variant	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2145G>A	1.37:g.62321734G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62094322	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Silent	SNP	ENST00000371158.2	37	CCDS617.2																																																																																				INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
LEPR	3953	hgsc.bcm.edu	37	1	66081844	66081844	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:66081844A>T	ENST00000349533.6	+	15	2334	c.2149A>T	c.(2149-2151)Atc>Ttc	p.I717F	LEPR_ENST00000371059.3_Missense_Mutation_p.I717F|LEPR_ENST00000371060.3_Missense_Mutation_p.I717F|LEPR_ENST00000344610.8_Missense_Mutation_p.I717F|LEPR_ENST00000371058.1_Missense_Mutation_p.I717F|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GGTTCTGGCCATCAATTCAAT	0.413																																																	0			1											160.0	149.0	153.0					1																	66081844		2203	4300	6503	65854432	SO:0001583	missense	54741			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.2149A>T	1.37:g.66081844A>T	ENSP00000330393:p.Ile717Phe	Somatic		Capture	Illumina HiSeq	Phase_I	65854432	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.409555	0.42715	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59	5.5	-5.83	0.02325	Fibronectin, type III (2);	0.830792	0.11351	N	0.573001	T	0.26085	0.0636	N	0.25647	0.755	0.37986	D	0.933762	P;P;P	0.44734	0.756;0.842;0.809	P;P;P	0.48400	0.475;0.452;0.576	T	0.51395	-0.8711	10	0.10111	T	0.7	-0.73	17.7553	0.88446	0.3788:0.0:0.6212:0.0	.	717;717;717	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	F	717	ENSP00000340884:I717F;ENSP00000330393:I717F;ENSP00000360099:I717F;ENSP00000360098:I717F;ENSP00000360097:I717F	ENSP00000340884:I717F	I	+	1	0	LEPR	65854432	0.000000	0.05858	0.377000	0.26055	0.352000	0.29268	-0.437000	0.06914	-0.928000	0.03761	-0.899000	0.02877	ATC		LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
LRRC7	57554	hgsc.bcm.edu	37	1	70226013	70226013	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:70226013T>A	ENST00000035383.5	+	1	156	c.126T>A	c.(124-126)ttT>ttA	p.F42L	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.F80L|LRRC7_ENST00000310961.5_Missense_Mutation_p.F47L	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	42						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGGAGGTCTTTAACTTCGAAC	0.413																																																	0			1											85.0	84.0	84.0					1																	70226013		2203	4300	6503	69998601	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.126T>A	1.37:g.70226013T>A	ENSP00000035383:p.Phe42Leu	Somatic		Capture	Illumina HiSeq	Phase_I	69998601	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158393	0.57368	.	.	ENSG00000033122	ENST00000310961;ENST00000370958;ENST00000035383;ENST00000335298	T;T;T	0.51817	2.07;0.69;1.82	5.84	3.56	0.40772	.	0.000000	0.85682	D	0.000000	T	0.33352	0.0860	N	0.20986	0.625	0.80722	D	1	P;D	0.61080	0.955;0.989	P;D	0.74348	0.833;0.983	T	0.15464	-1.0436	10	0.27082	T	0.32	.	7.1686	0.25706	0.0:0.3373:0.0:0.6627	.	42;80	Q96NW7;B1AKT2	LRRC7_HUMAN;.	L	47;80;42;42	ENSP00000309245:F47L;ENSP00000359997:F80L;ENSP00000035383:F42L	ENSP00000035383:F42L	F	+	3	2	LRRC7	69998601	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.239000	0.32719	0.503000	0.28060	0.528000	0.53228	TTT		LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
NEXN	91624	hgsc.bcm.edu	37	1	78383900	78383900	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:78383900A>G	ENST00000334785.7	+	5	573	c.389A>G	c.(388-390)gAg>gGg	p.E130G	NEXN_ENST00000457030.1_Missense_Mutation_p.E130G|NEXN_ENST00000294624.8_Missense_Mutation_p.E130G|NEXN_ENST00000330010.8_Missense_Mutation_p.E66G	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		CGCAGAATTGAGCAGGATATG	0.378																																																	0			1											130.0	127.0	128.0					1																	78383900		1908	4116	6024	78156488	SO:0001583	missense	91624			AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.389A>G	1.37:g.78383900A>G	ENSP00000333938:p.Glu130Gly	Somatic		Capture	Illumina HiSeq	Phase_I	78156488		Missense_Mutation	SNP	ENST00000334785.7	37	CCDS41351.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	19.26|19.26	3.792549|3.792549	0.70452|0.70452	.|.	.|.	ENSG00000162614|ENSG00000162614	ENST00000401035;ENST00000457030;ENST00000330010;ENST00000294624;ENST00000334785;ENST00000440324|ENST00000342754	T;T;T;T;T;T|.	0.70631|.	-0.46;0.04;-0.28;-0.5;-0.0;-0.3|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.000000|.	0.53938|.	D|.	0.000060|.	T|T	0.68467|0.68467	0.3004|0.3004	M|M	0.73962|0.73962	2.25|2.25	0.43255|0.43255	D|D	0.995187|0.995187	P;P;P;P|.	0.50819|.	0.807;0.939;0.899;0.594|.	B;P;B;B|.	0.45610|.	0.231;0.487;0.421;0.231|.	T|T	0.69580|0.69580	-0.5107|-0.5107	10|5	0.62326|.	D|.	0.03|.	-16.3273|-16.3273	15.5278|15.5278	0.75925|0.75925	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	66;130;130;66|.	D3DQ79;Q0ZGT2-2;Q0ZGT2;B4DPZ7|.	.;.;NEXN_HUMAN;.|.	G|G	66;130;66;130;130;130|30	ENSP00000383814:E66G;ENSP00000388048:E130G;ENSP00000327363:E66G;ENSP00000294624:E130G;ENSP00000333938:E130G;ENSP00000411902:E130G|.	ENSP00000294624:E130G|.	E|S	+|+	2|1	0|0	NEXN|NEXN	78156488|78156488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	5.907000|5.907000	0.69908|0.69908	2.320000|2.320000	0.78422|0.78422	0.528000|0.528000	0.53228|0.53228	GAG|AGC		NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	NM_144573	
ADORA3	140	hgsc.bcm.edu	37	1	112045664	112045664	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:112045664C>T	ENST00000241356.4	-	1	718	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T|ADORA3_ENST00000486342.1_5'UTR	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	105			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A105T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	CGGTCCACAGCGATGGCCAGC	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)	1											65.0	53.0	57.0					1																	112045664		2203	4300	6503	111847187	SO:0001583	missense	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000241356.4:c.313G>A	1.37:g.112045664C>T	ENSP00000241356:p.Ala105Thr	Somatic		Capture	Illumina HiSeq	Phase_I	111847187	A2A3P4|Q6UWU0|Q9BYZ1	Missense_Mutation	SNP	ENST00000241356.4	37	CCDS839.1	.	.	.	.	.	.	.	.	.	.	C	28.4	4.920791	0.92249	.	.	ENSG00000121933	ENST00000369716;ENST00000241356	T;T	0.76186	-1.0;-1.0	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000276	D	0.82930	0.5144	M	0.70108	2.13	0.53005	D	0.999968	D;D	0.76494	0.999;0.996	D;P	0.66497	0.944;0.879	D	0.84392	0.0555	10	0.72032	D	0.01	-14.8213	18.8155	0.92075	0.0:1.0:0.0:0.0	.	105;105	P33765;P33765-2	AA3R_HUMAN;.	T	105	ENSP00000358730:A105T;ENSP00000241356:A105T	ENSP00000241356:A105T	A	-	1	0	ADORA3	111847187	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.613000	0.88420	0.561000	0.74099	GCT		ADORA3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033065.1	NM_000677, NM_020683	
TRIM33	51592	hgsc.bcm.edu	37	1	114948146	114948146	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:114948146G>T	ENST00000358465.2	-	15	2737	c.2654C>A	c.(2653-2655)cCa>cAa	p.P885Q	TRIM33_ENST00000476908.1_5'UTR|TRIM33_ENST00000450349.2_Missense_Mutation_p.P517Q|TRIM33_ENST00000369543.2_Missense_Mutation_p.P885Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	885			P -> S (in a glioblastoma multiforme sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTTCATTTGGGTCATCATC	0.468			T	RET	papillary thyroid																																			Dom	yes		1	1p13	51592	""" tripartite motif-containing 33 (PTC7,TIF1G)"""		E	0			1											270.0	235.0	247.0					1																	114948146		2203	4300	6503	114749669	SO:0001583	missense	51592			AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.2654C>A	1.37:g.114948146G>T	ENSP00000351250:p.Pro885Gln	Somatic		Capture	Illumina HiSeq	Phase_I	114749669	O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Missense_Mutation	SNP	ENST00000358465.2	37	CCDS872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.828058|4.828058	0.90955|0.90955	.|.	.|.	ENSG00000197323|ENSG00000197323	ENST00000358465;ENST00000369543;ENST00000450349|ENST00000448034	D;D;T|.	0.85013|.	-1.93;-1.93;1.01|.	5.11|5.11	5.11|5.11	0.69529|0.69529	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.049961|.	0.85682|.	D|.	0.000000|.	T|T	0.49338|0.49338	0.1551|0.1551	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.87578|.	0.997;0.991;0.998;0.998;0.996|.	T|T	0.43426|0.43426	-0.9392|-0.9392	10|5	0.72032|.	D|.	0.01|.	-9.1981|-9.1981	18.8931|18.8931	0.92413|0.92413	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	517;517;80;885;885|.	E7EN20;B3KN30;Q9HAL0;Q9UPN9-2;Q9UPN9|.	.;.;.;.;TRI33_HUMAN|.	Q|K	885;885;517|646	ENSP00000351250:P885Q;ENSP00000358556:P885Q;ENSP00000412077:P517Q|.	ENSP00000351250:P885Q|.	P|Q	-|-	2|1	0|0	TRIM33|TRIM33	114749669|114749669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.779000|9.779000	0.99018|0.99018	2.533000|2.533000	0.85409|0.85409	0.491000|0.491000	0.48974|0.48974	CCA|CAA		TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	
NOTCH2	4853	hgsc.bcm.edu	37	1	120462032	120462032	+	Missense_Mutation	SNP	C	C	T	rs201996575		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:120462032C>T	ENST00000256646.2	-	31	5903	c.5684G>A	c.(5683-5685)cGt>cAt	p.R1895H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1895					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATCCAGGAGACGCTTGGCAGC	0.622			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				C|||	1	0.000199681	0.0	0.0	5008	,	,		17238	0.001		0.0	False		,,,				2504	0.0							Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0			1						C	HIS/ARG	0,4406		0,0,2203	65.0	58.0	61.0		5684	4.7	1.0	1		61	2,8598	2.2+/-6.3	0,2,4298	no	missense	NOTCH2	NM_024408.3	29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	1895/2472	120462032	2,13004	2203	4300	6503	120263555	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5684G>A	1.37:g.120462032C>T	ENSP00000256646:p.Arg1895His	Somatic		Capture	Illumina HiSeq	Phase_I	120263555	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	29.6	5.022029	0.93462	0.0	2.33E-4	ENSG00000134250	ENST00000256646	T	0.64438	-0.1	5.64	4.7	0.59300	Ankyrin repeat-containing domain (4);	0.000000	0.38492	U	0.001671	T	0.27832	0.0685	N	0.20807	0.61	0.80722	D	1	P	0.43750	0.816	B	0.31751	0.135	T	0.35001	-0.9806	10	0.72032	D	0.01	.	12.7339	0.57212	0.0:0.9181:0.0:0.0819	.	1895	Q04721	NOTC2_HUMAN	H	1895	ENSP00000256646:R1895H	ENSP00000256646:R1895H	R	-	2	0	NOTCH2	120263555	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	6.099000	0.71466	1.336000	0.45506	0.655000	0.94253	CGT		NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
BCL9	607	hgsc.bcm.edu	37	1	147092651	147092651	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:147092651C>T	ENST00000234739.3	+	8	3430	c.2690C>T	c.(2689-2691)gCg>gTg	p.A897V		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	897	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGCATGCTGGCGGGCCCAGCT	0.617			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0			1											77.0	79.0	78.0					1																	147092651		2203	4300	6503	145559275	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.2690C>T	1.37:g.147092651C>T	ENSP00000234739:p.Ala897Val	Somatic		Capture	Illumina HiSeq	Phase_I	145559275	Q5T489	Missense_Mutation	SNP	ENST00000234739.3	37	CCDS30833.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650912	0.47362	.	.	ENSG00000116128	ENST00000234739	T	0.60548	0.18	5.41	5.41	0.78517	.	0.109710	0.64402	D	0.000007	T	0.29223	0.0727	N	0.19112	0.55	0.35785	D	0.821976	P;P	0.43662	0.814;0.814	B;B	0.30943	0.122;0.122	T	0.44636	-0.9315	10	0.72032	D	0.01	-11.1779	19.3785	0.94521	0.0:1.0:0.0:0.0	.	897;897	Q1JQ81;O00512	.;BCL9_HUMAN	V	897	ENSP00000234739:A897V	ENSP00000234739:A897V	A	+	2	0	BCL9	145559275	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.510000	0.60455	2.815000	0.96918	0.561000	0.74099	GCG		BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326	
FLG	2312	hgsc.bcm.edu	37	1	152282661	152282661	+	Silent	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:152282661C>A	ENST00000368799.1	-	3	4736	c.4701G>T	c.(4699-4701)cgG>cgT	p.R1567R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1567	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGCCGGCCCGAGTGGAAG	0.582									Ichthyosis																																								0			1											188.0	198.0	195.0					1																	152282661		2203	4300	6503	150549285	SO:0001819	synonymous_variant	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4701G>T	1.37:g.152282661C>A		Somatic		Capture	Illumina HiSeq	Phase_I	150549285	Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	CCDS30860.1																																																																																				FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	hgsc.bcm.edu	37	1	152327875	152327875	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:152327875T>C	ENST00000388718.5	-	3	2459	c.2387A>G	c.(2386-2388)cAa>cGa	p.Q796R	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	796	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCCATGTTGTCCAAAGCC	0.517																																																	0			1											220.0	206.0	211.0					1																	152327875		2203	4297	6500	150594499	SO:0001583	missense	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2387A>G	1.37:g.152327875T>C	ENSP00000373370:p.Gln796Arg	Somatic		Capture	Illumina HiSeq	Phase_I	150594499	Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	4.830	0.154363	0.09236	.	.	ENSG00000143520	ENST00000388718	T	0.04970	3.52	3.67	1.23	0.21249	.	.	.	.	.	T	0.01156	0.0038	L	0.28556	0.865	0.09310	N	1	B	0.15473	0.013	B	0.14023	0.01	T	0.48364	-0.9042	9	0.15952	T	0.53	-6.4447	3.5185	0.07734	0.0:0.2297:0.1999:0.5703	.	796	Q5D862	FILA2_HUMAN	R	796	ENSP00000373370:Q796R	ENSP00000373370:Q796R	Q	-	2	0	FLG2	150594499	0.002000	0.14202	0.002000	0.10522	0.222000	0.24845	0.736000	0.26130	0.506000	0.28125	0.329000	0.21502	CAA		FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
SPRR1B	6699	hgsc.bcm.edu	37	1	153005071	153005071	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:153005071C>A	ENST00000307098.4	+	2	315	c.250C>A	c.(250-252)Cag>Aag	p.Q84K	SPRR1B_ENST00000392661.3_Missense_Mutation_p.Q68K	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	84					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCAGCCCAGCAGAAGACCAA	0.592																																																	0			1											73.0	71.0	72.0					1																	153005071		2203	4300	6503	151271695	SO:0001583	missense	6699			M84757	CCDS30863.1	1q21-q22	2010-06-25	2010-06-25		ENSG00000169469	ENSG00000169469			11260	protein-coding gene	gene with protein product	"""cornifin"""	182266		SPRR1		8325635, 1438308	Standard	NM_003125		Approved	GADD33	uc001fba.3	P22528	OTTHUMG00000013869	ENST00000307098.4:c.250C>A	1.37:g.153005071C>A	ENSP00000306461:p.Gln84Lys	Somatic		Capture	Illumina HiSeq	Phase_I	151271695	B2R5H7|P22529|P22530|Q5T524	Missense_Mutation	SNP	ENST00000307098.4	37	CCDS30863.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883964	0.72410	.	.	ENSG00000169469	ENST00000307098;ENST00000392661	T;T	0.11712	2.75;2.75	4.48	3.5	0.40072	.	.	.	.	.	T	0.09247	0.0228	.	.	.	0.22620	N	0.998923	P	0.52463	0.953	P	0.51516	0.672	T	0.06679	-1.0813	8	0.59425	D	0.04	-0.9395	10.9577	0.47366	0.0:0.8095:0.1905:0.0	.	84	P22528	SPR1B_HUMAN	K	84;68	ENSP00000306461:Q84K;ENSP00000376429:Q68K	ENSP00000306461:Q84K	Q	+	1	0	SPRR1B	151271695	0.998000	0.40836	0.976000	0.42696	0.984000	0.73092	1.329000	0.33770	2.183000	0.69458	0.655000	0.94253	CAG		SPRR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038906.1	NM_003125	
S100A2	6273	hgsc.bcm.edu	37	1	153533950	153533950	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:153533950T>C	ENST00000368708.3	-	3	631	c.259A>G	c.(259-261)Aat>Gat	p.N87D	S100A2_ENST00000487430.2_Missense_Mutation_p.N87D|S100A2_ENST00000497140.1_Missense_Mutation_p.N54D|S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368709.1_Missense_Mutation_p.N87D|S100A2_ENST00000368710.1_Missense_Mutation_p.N87D	NM_005978.3	NP_005969.1	P29034	S10A2_HUMAN	S100 calcium binding protein A2	88					endothelial cell migration (GO:0043542)		calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Olopatadine(DB00768)	AAGAAGTCATTGCACATGACA	0.537																																																	0			1											192.0	184.0	187.0					1																	153533950		2203	4300	6503	151800574	SO:0001583	missense	6273			BC002829	CCDS1044.1	1q21	2013-01-10	2001-11-28		ENSG00000196754	ENSG00000196754		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10492	protein-coding gene	gene with protein product		176993	"""S100 calcium-binding protein A2"""	S100L		8341667	Standard	NM_005978		Approved	CAN19	uc001fcb.3	P29034	OTTHUMG00000035031	ENST00000368708.3:c.259A>G	1.37:g.153533950T>C	ENSP00000357697:p.Asn87Asp	Somatic		Capture	Illumina HiSeq	Phase_I	151800574	O00266|Q3KRB9|Q5RHS8|Q9BU83	Missense_Mutation	SNP	ENST00000368708.3	37	CCDS1044.1	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818317	0.71028	.	.	ENSG00000196754	ENST00000368708;ENST00000368710;ENST00000368709;ENST00000368707	T;T;T	0.14516	2.5;2.5;2.5	4.79	4.79	0.61399	EF-hand-like domain (1);	0.140459	0.44688	D	0.000435	T	0.15782	0.0380	.	.	.	0.31889	N	0.617405	D	0.59767	0.986	P	0.56163	0.793	T	0.02109	-1.1212	9	0.66056	D	0.02	.	11.0015	0.47609	0.0:0.0:0.0:1.0	.	88	P29034	S10A2_HUMAN	D	87;87;87;128	ENSP00000357697:N87D;ENSP00000357699:N87D;ENSP00000357698:N87D	ENSP00000357696:N128D	N	-	1	0	S100A2	151800574	1.000000	0.71417	0.993000	0.49108	0.584000	0.36387	2.325000	0.43840	1.920000	0.55613	0.533000	0.62120	AAT		S100A2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084789.1	NM_005978	
DAP3	7818	hgsc.bcm.edu	37	1	155698872	155698872	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:155698872A>G	ENST00000368336.5	+	8	767	c.643A>G	c.(643-645)Agc>Ggc	p.S215G	DAP3_ENST00000421487.2_Missense_Mutation_p.S181G|DAP3_ENST00000471642.2_Missense_Mutation_p.S174G|DAP3_ENST00000535183.1_Missense_Mutation_p.S174G|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.S215G|MSTO1_ENST00000538143.1_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	215					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TAAGAGAGAAAGCACTGAGAA	0.393																																																	0			1											94.0	105.0	101.0					1																	155698872		2203	4300	6503	153965496	SO:0001583	missense	58512			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.643A>G	1.37:g.155698872A>G	ENSP00000357320:p.Ser215Gly	Somatic		Capture	Illumina HiSeq	Phase_I	153965496	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Missense_Mutation	SNP	ENST00000368336.5	37	CCDS1120.1	.	.	.	.	.	.	.	.	.	.	A	19.05	3.752434	0.69533	.	.	ENSG00000132676	ENST00000368336;ENST00000343043;ENST00000421487;ENST00000535183	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.55	4.43	0.53597	.	0.356351	0.37304	N	0.002159	T	0.50154	0.1599	M	0.78801	2.425	0.47621	D	0.999473	P;D;P	0.56287	0.9;0.975;0.947	P;P;P	0.55749	0.675;0.783;0.675	T	0.58216	-0.7675	10	0.72032	D	0.01	-7.8184	9.8745	0.41195	0.9227:0.0:0.0773:0.0	.	174;181;215	B4DP59;E7EM60;P51398	.;.;RT29_HUMAN	G	215;215;181;174	ENSP00000357320:S215G;ENSP00000341692:S215G;ENSP00000412605:S181G;ENSP00000445003:S174G	ENSP00000341692:S215G	S	+	1	0	DAP3	153965496	0.981000	0.34729	0.975000	0.42487	0.983000	0.72400	2.506000	0.45433	1.127000	0.42034	-0.361000	0.07541	AGC		DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632	
TTC24	164118	hgsc.bcm.edu	37	1	156551781	156551781	+	Missense_Mutation	SNP	C	C	T	rs562198796	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:156551781C>T	ENST00000368237.3	+	1	625	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	TTC24_ENST00000368236.3_Missense_Mutation_p.R209W			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	209										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGAGTGGGCGGCATCGGGT	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		15321	0.002		0.0	False		,,,				2504	0.0																0			1											6.0	7.0	7.0					1																	156551781		687	1581	2268	154818405	SO:0001583	missense	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.625C>T	1.37:g.156551781C>T	ENSP00000357220:p.Arg209Trp	Somatic		Capture	Illumina HiSeq	Phase_I	154818405	Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010647	0.19277	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	T;T	0.25912	1.77;1.77	4.58	4.58	0.56647	.	0.779066	0.10867	N	0.625342	T	0.08670	0.0215	N	0.08118	0	0.30324	N	0.787315	.	.	.	.	.	.	T	0.18903	-1.0322	8	0.56958	D	0.05	-0.3908	11.3736	0.49715	0.1812:0.8188:0.0:0.0	.	.	.	.	W	209	ENSP00000357219:R209W;ENSP00000357220:R209W	ENSP00000357219:R209W	R	+	1	2	TTC24	154818405	0.000000	0.05858	0.964000	0.40570	0.249000	0.25844	0.171000	0.16685	2.392000	0.81423	0.462000	0.41574	CGG		TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384	
SLAMF8	56833	hgsc.bcm.edu	37	1	159799725	159799725	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:159799725C>A	ENST00000289707.5	+	2	259	c.110C>A	c.(109-111)gCa>gAa	p.A37E	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	37					cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTGCTGGTGGCAGCGCGTCCC	0.602																																																	0			1											104.0	115.0	111.0					1																	159799725		2203	4300	6503	158066349	SO:0001583	missense	56833			AF146761	CCDS1188.1	1q23.1	2013-01-11			ENSG00000158714	ENSG00000158714		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21391	protein-coding gene	gene with protein product		606620				11313408	Standard	NM_020125		Approved	BLAME, SBBI42, CD353	uc001fue.4	Q9P0V8	OTTHUMG00000035433	ENST00000289707.5:c.110C>A	1.37:g.159799725C>A	ENSP00000289707:p.Ala37Glu	Somatic		Capture	Illumina HiSeq	Phase_I	158066349	Q32MC6|Q5VU15	Missense_Mutation	SNP	ENST00000289707.5	37	CCDS1188.1	.	.	.	.	.	.	.	.	.	.	C	11.49	1.655079	0.29425	.	.	ENSG00000158714	ENST00000289707	T	0.22945	1.93	4.44	3.53	0.40419	.	0.280361	0.33732	N	0.004614	T	0.19765	0.0475	L	0.32530	0.975	0.29450	N	0.858514	D	0.89917	1.0	D	0.80764	0.994	T	0.03325	-1.1048	10	0.35671	T	0.21	-7.575	8.0457	0.30547	0.0:0.8891:0.0:0.1109	.	37	Q9P0V8	SLAF8_HUMAN	E	37	ENSP00000289707:A37E	ENSP00000289707:A37E	A	+	2	0	SLAMF8	158066349	0.581000	0.26741	0.049000	0.19019	0.095000	0.18619	1.443000	0.35057	1.082000	0.41137	0.313000	0.20887	GCA		SLAMF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085983.1	NM_020125	
SUCO	51430	hgsc.bcm.edu	37	1	172520744	172520744	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:172520744A>G	ENST00000263688.3	+	2	374	c.155A>G	c.(154-156)gAa>gGa	p.E52G	SUCO_ENST00000608151.1_Missense_Mutation_p.E248G|SUCO_ENST00000610051.1_Missense_Mutation_p.E52G|SUCO_ENST00000367723.4_Missense_Mutation_p.E247G	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	52					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											CTAGAAAATGAAGATGTACAA	0.363																																																	0			1											85.0	82.0	83.0					1																	172520744		2203	4300	6503	170787367	SO:0001583	missense	51430			AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.155A>G	1.37:g.172520744A>G	ENSP00000263688:p.Glu52Gly	Somatic		Capture	Illumina HiSeq	Phase_I	170787367	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	37	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	A	16.60	3.169291	0.57584	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.69	5.69	0.88448	.	0.173923	0.40554	N	0.001076	T	0.43144	0.1234	L	0.32530	0.975	0.40970	D	0.984695	B;D;P;P	0.53885	0.18;0.963;0.953;0.9	B;P;P;P	0.53313	0.06;0.723;0.631;0.498	T	0.51505	-0.8697	9	0.72032	D	0.01	-7.2602	12.3245	0.55003	1.0:0.0:0.0:0.0	.	52;52;248;52	B4DYM4;B4DZJ3;Q5H945;Q9UBS9	.;.;.;OSPT_HUMAN	G	248;52	.	ENSP00000263688:E52G	E	+	2	0	C1orf9	170787367	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	3.914000	0.56401	2.153000	0.67306	0.477000	0.44152	GAA		SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
ASTN1	460	hgsc.bcm.edu	37	1	176845695	176845695	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:176845695C>T	ENST00000367654.3	-	21	3676	c.3465G>A	c.(3463-3465)gtG>gtA	p.V1155V	ASTN1_ENST00000361833.2_Silent_p.V1147V|ASTN1_ENST00000367657.3_Silent_p.V1147V|ASTN1_ENST00000424564.2_Silent_p.V1147V	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	1155					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CATCATCCACCACGGGGCATG	0.582																																																	0			1											150.0	113.0	125.0					1																	176845695		2203	4300	6503	175112318	SO:0001819	synonymous_variant	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.3465G>A	1.37:g.176845695C>T		Somatic		Capture	Illumina HiSeq	Phase_I	175112318	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Silent	SNP	ENST00000367654.3	37																																																																																					ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
ABL2	27	hgsc.bcm.edu	37	1	179078143	179078143	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:179078143T>C	ENST00000502732.1	-	12	2462	c.2259A>G	c.(2257-2259)acA>acG	p.T753T	ABL2_ENST00000504405.1_Intron|ABL2_ENST00000511413.1_Intron|ABL2_ENST00000507173.1_Intron|ABL2_ENST00000408940.3_Silent_p.T717T|ABL2_ENST00000344730.3_Intron|ABL2_ENST00000512653.1_Silent_p.T738T|ABL2_ENST00000367623.4_Silent_p.T732T	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	753	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTAAGCGTGGTGTAAAGAAGC	0.537			T	ETV6	AML																																			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	0			1											75.0	73.0	74.0					1																	179078143		2203	4300	6503	177344766	SO:0001819	synonymous_variant	27			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2259A>G	1.37:g.179078143T>C		Somatic		Capture	Illumina HiSeq	Phase_I	177344766	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	CCDS30947.1																																																																																				ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
ACBD6	84320	hgsc.bcm.edu	37	1	180257598	180257598	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:180257598T>C	ENST00000367595.3	-	8	1436	c.749A>G	c.(748-750)gAc>gGc	p.D250G	ACBD6_ENST00000475338.2_5'UTR	NM_032360.3	NP_115736.1	Q9BR61	ACBD6_HUMAN	acyl-CoA binding domain containing 6	250						cytoplasm (GO:0005737)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)		ACBD6/RRP15(2)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	7						GAGAGTGGGGTCAGCACCAGA	0.502																																																	0			1											47.0	44.0	45.0					1																	180257598		2203	4300	6503	178524221	SO:0001583	missense	84320			BC006505	CCDS1339.1	1q25.1	2013-10-11	2010-04-30		ENSG00000135847			"""Ankyrin repeat domain containing"""	23339	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 6"""			18268358	Standard	NM_032360		Approved	MGC2404	uc001gog.3	Q9BR61	OTTHUMG00000035117	ENST00000367595.3:c.749A>G	1.37:g.180257598T>C	ENSP00000356567:p.Asp250Gly	Somatic		Capture	Illumina HiSeq	Phase_I	178524221		Missense_Mutation	SNP	ENST00000367595.3	37	CCDS1339.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757174	0.69648	.	.	ENSG00000135847	ENST00000367595	T	0.75154	-0.91	5.66	5.66	0.87406	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.89938	0.6860	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92589	0.6081	10	0.72032	D	0.01	-13.5802	15.5553	0.76187	0.0:0.0:0.0:1.0	.	250	Q9BR61	ACBD6_HUMAN	G	250	ENSP00000356567:D250G	ENSP00000356567:D250G	D	-	2	0	ACBD6	178524221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.890000	0.75633	2.137000	0.66172	0.528000	0.53228	GAC		ACBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084998.1	NM_032360	
MR1	3140	hgsc.bcm.edu	37	1	181021646	181021646	+	Splice_Site	SNP	G	G	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:181021646G>C	ENST00000367580.5	+	4	885	c.880G>C	c.(880-882)Gaa>Caa	p.E294Q	MR1_ENST00000434571.2_Intron|MR1_ENST00000282990.6_Intron|MR1_ENST00000367579.3_Splice_Site_p.E249Q|MR1_ENST00000438435.2_Intron	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	294	Connecting peptide.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	MHC class I receptor activity (GO:0032393)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18					Antithymocyte globulin(DB00098)	GGTCCCCCAGGGTAAGGACGG	0.577																																					Colon(174;1412 1962 45296 46549 47110)												0			1											43.0	47.0	46.0					1																	181021646		2202	4300	6502	179288269	SO:0001630	splice_region_variant	25953			AF010446	CCDS1342.1, CCDS53440.1, CCDS53441.1, CCDS53442.1	1q25.3	2013-01-11	2003-03-05	2003-03-07	ENSG00000153029	ENSG00000153029		"""Immunoglobulin superfamily / C1-set domain containing"""	4975	protein-coding gene	gene with protein product		600764	"""major histocompatibility complex, class I-like sequence"""	HLALS		7624800, 9784382	Standard	NM_001194999		Approved		uc001goq.2	Q95460	OTTHUMG00000035175	ENST00000367580.5:c.880+1G>C	1.37:g.181021646G>C		Somatic		Capture	Illumina HiSeq	Phase_I	179288269	A8K2V9|B4E3B1|O97985|O97986|Q53GM1|Q95HB8|Q9MY23|Q9NPL2|Q9TQB3|Q9TQB9|Q9TQK3	Missense_Mutation	SNP	ENST00000367580.5	37	CCDS1342.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295785	0.60086	.	.	ENSG00000153029	ENST00000367580;ENST00000367579	T;T	0.01106	5.8;5.33	4.37	4.37	0.52481	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.132790	0.00927	N	0.002673	T	0.01835	0.0058	N	0.11560	0.145	0.80722	D	1	P;P	0.52061	0.95;0.596	P;B	0.48227	0.571;0.203	T	0.56505	-0.7968	10	0.87932	D	0	.	12.3266	0.55013	0.0:0.0:1.0:0.0	.	249;294	Q95460-2;Q95460	.;HMR1_HUMAN	Q	294;249	ENSP00000356552:E294Q;ENSP00000356551:E249Q	ENSP00000356551:E249Q	E	+	1	0	MR1	179288269	1.000000	0.71417	0.069000	0.20011	0.378000	0.30076	1.611000	0.36879	2.267000	0.75376	0.655000	0.94253	GAA		MR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085134.2	NM_001531	Missense_Mutation
SMG7	9887	hgsc.bcm.edu	37	1	183513620	183513620	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:183513620C>T	ENST00000347615.2	+	15	2094	c.1975C>T	c.(1975-1977)Ccc>Tcc	p.P659S	SMG7_ENST00000508461.1_Missense_Mutation_p.P617S|SMG7_ENST00000515829.2_Missense_Mutation_p.P613S|SMG7_ENST00000507469.1_Missense_Mutation_p.P613S|SMG7_ENST00000456731.2_Missense_Mutation_p.P571S|SMG7_ENST00000367537.3_Missense_Mutation_p.P642S	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	659	Gln/Pro-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCTCCTCTTCCCAGCAGGCC	0.423																																																	0			1											106.0	104.0	104.0					1																	183513620		2203	4300	6503	181780243	SO:0001583	missense	9887			D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.1975C>T	1.37:g.183513620C>T	ENSP00000340766:p.Pro659Ser	Somatic		Capture	Illumina HiSeq	Phase_I	181780243	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	ENST00000347615.2	37	CCDS1355.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288787	0.80914	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000419169;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19;0.19;0.19	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.996;0.994;0.994;0.998;0.996;0.996	T	0.69450	-0.5142	10	0.59425	D	0.04	-11.3651	20.2985	0.98592	0.0:1.0:0.0:0.0	.	617;642;571;613;659;613	E9PCI0;E9PD50;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;.;SMG7_HUMAN;.	S	571;642;617;571;659;613;613	ENSP00000407629:P571S;ENSP00000356507:P642S;ENSP00000426915:P617S;ENSP00000388390:P571S;ENSP00000340766:P659S;ENSP00000425133:P613S;ENSP00000421358:P613S	ENSP00000340766:P659S	P	+	1	0	SMG7	181780243	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.264000	0.78432	2.793000	0.96121	0.655000	0.94253	CCC		SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837	
CDC73	79577	hgsc.bcm.edu	37	1	193094338	193094338	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:193094338A>G	ENST00000367435.3	+	2	412	c.228A>G	c.(226-228)cgA>cgG	p.R76R		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	76					cell cycle (GO:0007049)|cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein destabilization (GO:0031648)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTATGTCCGACGTGCAGCTG	0.388																																																	0			1											139.0	139.0	139.0					1																	193094338		2203	4300	6503	191360961	SO:0001819	synonymous_variant	79577			AF312865	CCDS1382.1	1q25	2014-09-17	2013-01-17	2005-07-20	ENSG00000134371	ENSG00000134371			16783	protein-coding gene	gene with protein product	"""Paf1/RNA polymerase II complex component"""	607393	"""chromosome 1 open reading frame 28"", ""hyperparathyroidism 2 (with jaw tumor)"", ""cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"", ""hyperparathyroidism 1"""	C1orf28, HRPT2, HRPT1		11318611, 15632063, 18755853	Standard	NM_024529		Approved	parafibromin, FIHP	uc001gtb.3	Q6P1J9	OTTHUMG00000035676	ENST00000367435.3:c.228A>G	1.37:g.193094338A>G		Somatic		Capture	Illumina HiSeq	Phase_I	191360961	A6NLZ8|B2RBR2|Q6PK51|Q96A07|Q9H245|Q9H5L7	Silent	SNP	ENST00000367435.3	37	CCDS1382.1																																																																																				CDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086696.2	NM_024529	
ZNF281	23528	hgsc.bcm.edu	37	1	200377255	200377255	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:200377255T>C	ENST00000294740.3	-	2	1703	c.1579A>G	c.(1579-1581)Ata>Gta	p.I527V	ZNF281_ENST00000367352.3_Missense_Mutation_p.I491V|ZNF281_ENST00000367353.1_Missense_Mutation_p.I527V	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	527			I -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTACTACTTATCTGACCTTGT	0.393																																																	0			1											88.0	89.0	89.0					1																	200377255		2202	4300	6502	198643878	SO:0001583	missense	23528			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1579A>G	1.37:g.200377255T>C	ENSP00000294740:p.Ile527Val	Somatic		Capture	Illumina HiSeq	Phase_I	198643878	A6NF48|B3KMX2|Q5RKW5|Q9NY92	Missense_Mutation	SNP	ENST00000294740.3	37	CCDS1402.1	.	.	.	.	.	.	.	.	.	.	T	6.217	0.408218	0.11754	.	.	ENSG00000162702	ENST00000294740;ENST00000367353;ENST00000367352;ENST00000537759	T;T;T	0.40476	1.03;1.03;1.03	5.63	4.46	0.54185	.	0.203364	0.53938	D	0.000057	T	0.32793	0.0841	L	0.44542	1.39	0.28383	N	0.91943	B;B	0.18863	0.017;0.031	B;B	0.14023	0.007;0.01	T	0.17806	-1.0357	10	0.42905	T	0.14	-4.2867	8.667	0.34127	0.1271:0.0:0.1329:0.74	.	491;527	A6NF48;Q9Y2X9	.;ZN281_HUMAN	V	527;527;491;232	ENSP00000294740:I527V;ENSP00000356322:I527V;ENSP00000356321:I491V	ENSP00000294740:I527V	I	-	1	0	ZNF281	198643878	0.994000	0.37717	0.796000	0.32109	0.972000	0.66771	2.349000	0.44054	2.134000	0.65973	0.528000	0.53228	ATA		ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086879.2	NM_012482	
USH2A	7399	hgsc.bcm.edu	37	1	216591942	216591942	+	Missense_Mutation	SNP	G	G	T	rs370653547		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:216591942G>T	ENST00000307340.3	-	3	951	c.565C>A	c.(565-567)Cgc>Agc	p.R189S	USH2A_ENST00000366942.3_Missense_Mutation_p.R189S|USH2A_ENST00000366943.2_Missense_Mutation_p.R189S	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	189					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.R189C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTTACTGTGCGATAATAAAAC	0.368										HNSCC(13;0.011)																																							1	Substitution - Missense(1)	ovary(1)	1											130.0	124.0	126.0					1																	216591942		2203	4300	6503	214658565	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.565C>A	1.37:g.216591942G>T	ENSP00000305941:p.Arg189Ser	Somatic		Capture	Illumina HiSeq	Phase_I	214658565	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571741	0.86542	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.73047	-0.71;-0.71;-0.71	5.62	5.62	0.85841	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.43579	U	0.000557	D	0.83207	0.5204	M	0.65975	2.015	0.41448	D	0.987962	D;D	0.71674	0.998;0.997	D;D	0.67231	0.927;0.95	D	0.84609	0.0677	10	0.87932	D	0	.	19.6478	0.95789	0.0:0.0:1.0:0.0	.	189;189	O75445-2;O75445	.;USH2A_HUMAN	S	189	ENSP00000305941:R189S;ENSP00000355910:R189S;ENSP00000355909:R189S	ENSP00000305941:R189S	R	-	1	0	USH2A	214658565	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	4.047000	0.57383	2.638000	0.89438	0.655000	0.94253	CGC		USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
MARK1	4139	hgsc.bcm.edu	37	1	220809268	220809268	+	Missense_Mutation	SNP	T	T	C	rs200408827		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:220809268T>C	ENST00000366917.4	+	13	1636	c.1370T>C	c.(1369-1371)gTg>gCg	p.V457A	MARK1_ENST00000366918.4_Missense_Mutation_p.V435A|MARK1_ENST00000402574.1_Missense_Mutation_p.V322A					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GACAAAGATGTGGCTCGAAAA	0.448																																																	0			1						T	ALA/VAL	0,4406		0,0,2203	106.0	102.0	103.0		1370	3.7	0.0	1		103	1,8599	1.2+/-3.3	0,1,4299	yes	missense	MARK1	NM_018650.3	64	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	457/796	220809268	1,13005	2203	4300	6503	218875891	SO:0001583	missense	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1370T>C	1.37:g.220809268T>C	ENSP00000355884:p.Val457Ala	Somatic		Capture	Illumina HiSeq	Phase_I	218875891		Missense_Mutation	SNP	ENST00000366917.4	37	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	T	5.271	0.235398	0.10023	0.0	1.16E-4	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.30714	1.52;1.52;1.52	6.03	3.7	0.42460	.	0.902953	0.09402	N	0.807010	T	0.13372	0.0324	N	0.04959	-0.14	0.09310	N	1	B;B;B;B	0.14012	0.009;0.001;0.0;0.0	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.33317	-0.9873	10	0.07175	T	0.84	.	7.2949	0.26387	0.0:0.0702:0.2758:0.6541	.	457;322;457;435	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	A	322;435;457	ENSP00000386017:V322A;ENSP00000355885:V435A;ENSP00000355884:V457A	ENSP00000355884:V457A	V	+	2	0	MARK1	218875891	0.189000	0.23263	0.001000	0.08648	0.997000	0.91878	1.807000	0.38902	0.512000	0.28257	0.533000	0.62120	GTG		MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
LYST	1130	hgsc.bcm.edu	37	1	235840883	235840883	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:235840883A>G	ENST00000389794.3	-	49	11011	c.10837T>C	c.(10837-10839)Tat>Cat	p.Y3613H	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.Y3613H			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3613					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTGTGACCATAGAGATGTATT	0.338																																																	0			1											142.0	126.0	132.0					1																	235840883		2203	4300	6503	233907506	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.10837T>C	1.37:g.235840883A>G	ENSP00000374444:p.Tyr3613His	Somatic		Capture	Illumina HiSeq	Phase_I	233907506	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445270	0.83993	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.28069	1.63;1.63	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.45915	0.1366	L	0.41415	1.275	0.80722	D	1	D	0.61697	0.99	D	0.67382	0.951	T	0.27536	-1.0071	10	0.39692	T	0.17	.	15.9462	0.79796	1.0:0.0:0.0:0.0	.	3613	Q99698	LYST_HUMAN	H	3613	ENSP00000374444:Y3613H;ENSP00000374443:Y3613H	ENSP00000374443:Y3613H	Y	-	1	0	LYST	233907506	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.233000	0.95337	2.168000	0.68352	0.533000	0.62120	TAT		LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5		
RYR2	6262	hgsc.bcm.edu	37	1	237806695	237806695	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:237806695A>G	ENST00000366574.2	+	48	7607	c.7290A>G	c.(7288-7290)ggA>ggG	p.G2430G	RYR2_ENST00000360064.6_Silent_p.G2428G|RYR2_ENST00000542537.1_Silent_p.G2414G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2430	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.G2428G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCCCCTGGGAGATTTGGTGG	0.433																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	1											187.0	177.0	180.0					1																	237806695		1882	4114	5996	235873318	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.7290A>G	1.37:g.237806695A>G		Somatic		Capture	Illumina HiSeq	Phase_I	235873318	Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	CCDS55691.1																																																																																				RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
FAM160A2	84067	hgsc.bcm.edu	37	11	6232882	6232882	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:6232882C>A	ENST00000449352.2	-	12	3036	c.2773G>T	c.(2773-2775)Gtc>Ttc	p.V925F	FAM160A2_ENST00000265978.4_Missense_Mutation_p.V939F|FAM160A2_ENST00000529360.1_5'UTR			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	925					early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCACAGTAGACAGCATTCTTG	0.572																																																	0			11											88.0	92.0	91.0					11																	6232882		2201	4296	6497	6189458	SO:0001583	missense	84067				CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.2773G>T	11.37:g.6232882C>A	ENSP00000416918:p.Val925Phe	Somatic		Capture	Illumina HiSeq	Phase_I	6189458	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	ENST00000449352.2	37	CCDS44530.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058117	0.76074	.	.	ENSG00000051009	ENST00000449352;ENST00000265978	T;T	0.19105	2.18;2.17	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.85130	0.994;0.997	T	0.47787	-0.9090	10	0.72032	D	0.01	-10.5269	17.724	0.88360	0.0:1.0:0.0:0.0	.	925;939	Q8N612;Q8N612-2	F16A2_HUMAN;.	F	925;939	ENSP00000416918:V925F;ENSP00000265978:V939F	ENSP00000265978:V939F	V	-	1	0	FAM160A2	6189458	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.175000	0.77632	2.501000	0.84356	0.650000	0.86243	GTC		FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383759.1	NM_032127	
CD44	960	hgsc.bcm.edu	37	11	35219752	35219752	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:35219752G>A	ENST00000428726.2	+	7	1004	c.881G>A	c.(880-882)gGa>gAa	p.G294E	CD44_ENST00000437706.2_Missense_Mutation_p.G294E|CD44_ENST00000415148.2_Missense_Mutation_p.G251E|CD44_ENST00000360158.4_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000528922.1_3'UTR|CD44_ENST00000433354.2_Missense_Mutation_p.G294E|CD44_ENST00000278386.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.G294E|CD44_ENST00000352818.4_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000434472.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	294	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AGTTTTTCTGGATCAGGCATT	0.398																																																	0			11											109.0	104.0	105.0					11																	35219752		2202	4298	6500	35176328	SO:0001583	missense	960			M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.881G>A	11.37:g.35219752G>A	ENSP00000398632:p.Gly294Glu	Somatic		Capture	Illumina HiSeq	Phase_I	35176328	A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	CCDS7897.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.1|21.1|21.1	4.105268|4.105268|4.105268	0.77096|0.77096|0.77096	.|.|.	.|.|.	ENSG00000026508|ENSG00000026508|ENSG00000026508	ENST00000525685|ENST00000415148;ENST00000433354;ENST00000449691;ENST00000437706;ENST00000428726;ENST00000525688;ENST00000533222|ENST00000524922	.|T;T;T;T;T;T;T|.	.|0.26067|.	.|1.76;1.76;1.76;1.76;1.76;1.76;1.76|.	5.33|5.33|5.33	5.33|5.33|5.33	0.75918|0.75918|0.75918	.|.|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000015|.	T|T|.	0.68869|0.68869|.	0.3048|0.3048|.	L|L|L	0.55481|0.55481|0.55481	1.735|1.735|1.735	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.97110|.	.|1.0;0.999|.	T|T|.	0.66077|0.66077|.	-0.6013|-0.6013|.	5|10|.	.|0.48119|.	.|T|.	.|0.1|.	-8.7524|-8.7524|-8.7524	14.8749|14.8749|14.8749	0.70488|0.70488|0.70488	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|251;294|.	.|P16070-4;P16070|.	.|.;CD44_HUMAN|.	N|E|X	162|251;294;294;294;294;90;84|38	.|ENSP00000389830:G251E;ENSP00000414567:G294E;ENSP00000391008:G294E;ENSP00000403990:G294E;ENSP00000398632:G294E;ENSP00000436980:G90E;ENSP00000435321:G84E|.	.|ENSP00000389830:G251E|.	D|G|W	+|+|+	1|2|3	0|0|0	CD44|CD44|CD44	35176328|35176328|35176328	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	4.417000|4.417000|4.417000	0.59822|0.59822|0.59822	2.658000|2.658000|2.658000	0.90341|0.90341|0.90341	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAT|GGA|TGG		CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610	
OR5AS1	219447	hgsc.bcm.edu	37	11	55798687	55798687	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:55798687A>G	ENST00000313555.1	+	1	793	c.793A>G	c.(793-795)Agc>Ggc	p.S265G		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCCCACCACTAGCTATTCCCT	0.413																																																	0			11											103.0	88.0	93.0					11																	55798687		2201	4296	6497	55555263	SO:0001583	missense	219447			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.793A>G	11.37:g.55798687A>G	ENSP00000324111:p.Ser265Gly	Somatic		Capture	Illumina HiSeq	Phase_I	55555263	Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	A	11.46	1.644271	0.29246	.	.	ENSG00000181785	ENST00000313555	T	0.00115	8.71	5.14	5.14	0.70334	GPCR, rhodopsin-like superfamily (1);	0.389671	0.18794	U	0.130989	T	0.00178	0.0005	N	0.25647	0.755	0.09310	N	1	P	0.47484	0.896	P	0.46510	0.519	T	0.66484	-0.5912	10	0.46703	T	0.11	.	13.7773	0.63062	1.0:0.0:0.0:0.0	.	265	Q8N127	O5AS1_HUMAN	G	265	ENSP00000324111:S265G	ENSP00000324111:S265G	S	+	1	0	OR5AS1	55555263	0.000000	0.05858	0.879000	0.34478	0.065000	0.16274	0.612000	0.24283	1.935000	0.56089	0.472000	0.43445	AGC		OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921	
OR8H1	219469	hgsc.bcm.edu	37	11	56057870	56057870	+	Silent	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:56057870G>T	ENST00000313022.2	-	1	696	c.669C>A	c.(667-669)acC>acA	p.T223T		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T223T(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTTTCAGGATGGTAGAGAGAA	0.393																																																	1	Substitution - coding silent(1)	ovary(1)	11											136.0	125.0	129.0					11																	56057870		2201	4294	6495	55814446	SO:0001819	synonymous_variant	219469			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.669C>A	11.37:g.56057870G>T		Somatic		Capture	Illumina HiSeq	Phase_I	55814446	B2RNI7|Q6IFC5	Silent	SNP	ENST00000313022.2	37	CCDS31526.1																																																																																				OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370019.1	NM_001005199	
OR8K3	219473	hgsc.bcm.edu	37	11	56086256	56086256	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:56086256A>G	ENST00000312711.1	+	1	474	c.474A>G	c.(472-474)ctA>ctG	p.L158L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	158						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L158L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTCTCTTCTAGTCACCATAA	0.398																																																	1	Substitution - coding silent(1)	ovary(1)	11											111.0	113.0	112.0					11																	56086256		2201	4296	6497	55842832	SO:0001819	synonymous_variant	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.474A>G	11.37:g.56086256A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55842832	Q6IFC4	Silent	SNP	ENST00000312711.1	37	CCDS31527.1																																																																																				OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391602.1	NM_001005202	
OR8U1	219417	hgsc.bcm.edu	37	11	56143810	56143810	+	Silent	SNP	T	T	C	rs201982103	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:56143810T>C	ENST00000302270.1	+	1	711	c.711T>C	c.(709-711)gcT>gcC	p.A237A		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					GACAGAAGGCTTTCTCGACGT	0.473																																																	0			11											124.0	126.0	125.0					11																	56143810		2062	4235	6297	55900386	SO:0001819	synonymous_variant	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.711T>C	11.37:g.56143810T>C		Somatic		Capture	Illumina HiSeq	Phase_I	55900386		Silent	SNP	ENST00000302270.1	37	CCDS41647.1																																																																																				OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
OR5M8	219484	hgsc.bcm.edu	37	11	56258344	56258344	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:56258344C>A	ENST00000327216.2	-	1	527	c.503G>T	c.(502-504)tGt>tTt	p.C168F		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					ATTGGGGCCACAGAAGGCTAG	0.488																																																	0			11											90.0	89.0	89.0					11																	56258344		2201	4296	6497	56014920	SO:0001583	missense	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.503G>T	11.37:g.56258344C>A	ENSP00000323354:p.Cys168Phe	Somatic		Capture	Illumina HiSeq	Phase_I	56014920	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.364776	0.41902	.	.	ENSG00000181371	ENST00000327216	T	0.00249	8.44	4.35	4.35	0.52113	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43747	D	0.000536	T	0.00754	0.0025	M	0.90977	3.165	0.37439	D	0.914332	D	0.89917	1.0	D	0.81914	0.995	T	0.62737	-0.6791	10	0.87932	D	0	-21.0048	14.9019	0.70687	0.0:1.0:0.0:0.0	.	168	Q8NGP6	OR5M8_HUMAN	F	168	ENSP00000323354:C168F	ENSP00000323354:C168F	C	-	2	0	OR5M8	56014920	1.000000	0.71417	1.000000	0.80357	0.388000	0.30384	3.842000	0.55858	2.153000	0.67306	0.632000	0.83419	TGT		OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282	
PRPF19	27339	hgsc.bcm.edu	37	11	60666669	60666669	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:60666669G>A	ENST00000227524.4	-	11	1141	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CATGAAGGCTGAGGCCTGTCA	0.592											OREG0020994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11											57.0	46.0	49.0					11																	60666669		2203	4299	6502	60423245	SO:0001819	synonymous_variant	27339			BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.936C>T	11.37:g.60666669G>A		Somatic	1047	Capture	Illumina HiSeq	Phase_I	60423245		Silent	SNP	ENST00000227524.4	37	CCDS7995.1																																																																																				PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502	
GNG3	2785	hgsc.bcm.edu	37	11	62475816	62475816	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:62475816C>T	ENST00000294117.5	+	2	308	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	BSCL2_ENST00000405837.1_Intron|BSCL2_ENST00000403550.1_5'Flank|HNRNPUL2-BSCL2_ENST00000403734.2_Intron|BSCL2_ENST00000537604.1_5'Flank|BSCL2_ENST00000433053.1_Intron|BSCL2_ENST00000421906.1_5'Flank|BSCL2_ENST00000278893.7_5'Flank|BSCL2_ENST00000407022.3_5'Flank|BSCL2_ENST00000360796.5_5'Flank	NM_012202.4	NP_036334.1	P63215	GBG3_HUMAN	guanine nucleotide binding protein (G protein), gamma 3	17					activation of MAPK activity (GO:0000187)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	5						TGGGCAAGCACGCAAGATGGT	0.552																																																	0			11											163.0	152.0	156.0					11																	62475816		2202	4299	6501	62232392	SO:0001583	missense	2785			AF075042	CCDS8032.1	11p11	2008-07-18				ENSG00000162188			4405	protein-coding gene	gene with protein product	"""guanine nucleotide-binding protein gamma-3 subunit"", ""NBP gamma-3"""	608941				10644457	Standard	NM_012202		Approved		uc001nuv.4	P63215		ENST00000294117.5:c.49C>T	11.37:g.62475816C>T	ENSP00000294117:p.Arg17Cys	Somatic		Capture	Illumina HiSeq	Phase_I	62232392	B2R4S7|P29798|Q61014	Missense_Mutation	SNP	ENST00000294117.5	37	CCDS8032.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.776453	0.70107	.	.	ENSG00000162188	ENST00000294117	T	0.35421	1.31	5.15	5.15	0.70609	G-protein gamma domain (5);	0.000000	0.85682	D	0.000000	T	0.58104	0.2099	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.61549	-0.7040	9	0.87932	D	0	-8.2157	11.6093	0.51049	0.178:0.822:0.0:0.0	.	17	P63215	GBG3_HUMAN	C	17	ENSP00000294117:R17C	ENSP00000294117:R17C	R	+	1	0	GNG3	62232392	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.560000	0.53763	2.559000	0.86315	0.558000	0.71614	CGC		GNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395020.1	NM_012202	
CCDC88B	283234	hgsc.bcm.edu	37	11	64121189	64121189	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:64121189A>G	ENST00000356786.5	+	23	3880	c.3836A>G	c.(3835-3837)gAc>gGc	p.D1279G	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.D431G|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1279						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTGCCAGGGACCAGCTTAAT	0.647																																																	0			11											126.0	121.0	123.0					11																	64121189		2201	4297	6498	63877765	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3836A>G	11.37:g.64121189A>G	ENSP00000349238:p.Asp1279Gly	Somatic		Capture	Illumina HiSeq	Phase_I	63877765	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	a	14.46	2.541696	0.45280	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.68903	-0.36;-0.36	3.11	1.92	0.25849	.	.	.	.	.	T	0.73377	0.3579	M	0.62723	1.935	0.80722	D	1	D;P;D;D	0.76494	0.999;0.905;0.995;0.999	D;B;P;D	0.65573	0.936;0.39;0.898;0.936	T	0.70999	-0.4719	9	0.72032	D	0.01	.	6.2098	0.20623	0.7393:0.2607:0.0:0.0	.	1279;1161;415;1279	B2RTU8;A6NC98-4;A6NC98-5;A6NC98	.;.;.;CC88B_HUMAN	G	1161;1279;431	ENSP00000349238:D1279G;ENSP00000352974:D431G	ENSP00000349238:D1279G	D	+	2	0	CCDC88B	63877765	0.987000	0.35691	0.986000	0.45419	0.692000	0.40212	1.187000	0.32090	0.377000	0.24735	0.379000	0.24179	GAC		CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251	
KRTAP5-7	440050	hgsc.bcm.edu	37	11	71238483	71238483	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:71238483G>A	ENST00000398536.4	+	1	171	c.137G>A	c.(136-138)tGc>tAc	p.C46Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	46	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						AAGCCCGTGTGCTGCTGTGTG	0.692																																																	0			11											76.0	101.0	93.0					11																	71238483		2195	4286	6481	70916131	SO:0001583	missense	440050			AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.137G>A	11.37:g.71238483G>A	ENSP00000417330:p.Cys46Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	70916131	B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	11.17	1.559049	0.27827	.	.	ENSG00000244411	ENST00000398536	T	0.02395	4.31	1.8	1.8	0.24995	.	.	.	.	.	T	0.18635	0.0447	H	0.94183	3.505	0.28807	N	0.898436	D	0.62365	0.991	D	0.68039	0.955	T	0.02877	-1.1099	9	0.87932	D	0	.	9.6322	0.39787	0.0:0.0:1.0:0.0	.	46	Q6L8G8	KRA57_HUMAN	Y	46	ENSP00000417330:C46Y	ENSP00000417330:C46Y	C	+	2	0	KRTAP5-7	70916131	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	2.307000	0.43682	1.345000	0.45676	0.281000	0.19383	TGC		KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1		
FOLR2	2350	hgsc.bcm.edu	37	11	71932638	71932638	+	Silent	SNP	C	C	T	rs138209906		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:71932638C>T	ENST00000298223.6	+	5	787	c.600C>T	c.(598-600)agC>agT	p.S200S	FOLR2_ENST00000449475.2_Silent_p.S196S|FOLR2_ENST00000454954.2_Silent_p.S159S	NM_000803.4|NM_001113534.1|NM_001113535.1|NM_001113536.1	NP_000794.3|NP_001107006.1|NP_001107007.1|NP_001107008.1	P14207	FOLR2_HUMAN	folate receptor 2 (fetal)	200					folic acid transport (GO:0015884)	anchored component of external side of plasma membrane (GO:0031362)|extracellular region (GO:0005576)|membrane (GO:0016020)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)	p.S200R(1)|p.S200S(1)		breast(3)|large_intestine(3)|ovary(1)|skin(1)	8					Folic Acid(DB00158)	GCCGAGGGAGCGGCCGCTGCA	0.572																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	ovary(1)|breast(1)	11						C	,,,	1,4399	2.1+/-5.4	0,1,2199	93.0	94.0	94.0		600,600,600,600	-9.1	0.2	11	dbSNP_134	94	0,8586		0,0,4293	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FOLR2	NM_000803.4,NM_001113534.1,NM_001113535.1,NM_001113536.1	,,,	0,1,6492	TT,TC,CC		0.0,0.0227,0.0077	,,,	200/256,200/256,200/256,200/256	71932638	1,12985	2200	4293	6493	71610286	SO:0001819	synonymous_variant	2350			AK222539	CCDS8212.1	11q13.3-q14.1	2010-04-08			ENSG00000165457	ENSG00000165457			3793	protein-coding gene	gene with protein product		136425				1133088, 7698003	Standard	NM_000803		Approved		uc009ytf.3	P14207	OTTHUMG00000150394	ENST00000298223.6:c.600C>T	11.37:g.71932638C>T		Somatic		Capture	Illumina HiSeq	Phase_I	71610286	Q05CA5|Q6GTE8	Silent	SNP	ENST00000298223.6	37	CCDS8212.1	.	.	.	.	.	.	.	.	.	.	c	8.149	0.787002	0.16189	2.27E-4	0.0	ENSG00000165457	ENST00000413873	.	.	.	4.58	-9.13	0.00704	.	.	.	.	.	T	0.53867	0.1823	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.67205	-0.5729	5	0.87932	D	0	.	6.7188	0.23318	0.1092:0.5845:0.1106:0.1957	.	.	.	.	V	214	.	ENSP00000412980:A214V	A	+	2	0	FOLR2	71610286	0.000000	0.05858	0.182000	0.23118	0.945000	0.59286	-4.433000	0.00235	-2.021000	0.00939	0.462000	0.41574	GCG		FOLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317923.2	NM_000803	
INTS4	92105	hgsc.bcm.edu	37	11	77602469	77602469	+	Missense_Mutation	SNP	C	C	G	rs1044911		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:77602469C>G	ENST00000534064.1	-	21	2522	c.2488G>C	c.(2488-2490)Gag>Cag	p.E830Q	AAMDC_ENST00000304716.8_Intron|AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.E205Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	830					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TTGTCTGACTCGCCCGCTGGC	0.507																																																	0			11											44.0	41.0	42.0					11																	77602469		2200	4292	6492	77280117	SO:0001583	missense	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2488G>C	11.37:g.77602469C>G	ENSP00000434466:p.Glu830Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77280117	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.732313	0.69189	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.74884	0.3775	L	0.52364	1.645	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.72316	-0.4330	9	0.37606	T	0.19	-20.5562	18.7604	0.91848	0.0:1.0:0.0:0.0	.	830	Q96HW7	INT4_HUMAN	Q	830;205	.	ENSP00000434466:E830Q	E	-	1	0	INTS4	77280117	1.000000	0.71417	1.000000	0.80357	0.477000	0.33069	7.540000	0.82074	2.667000	0.90743	0.585000	0.79938	GAG		INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	
INTS4	92105	hgsc.bcm.edu	37	11	77672105	77672105	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:77672105A>G	ENST00000534064.1	-	5	585	c.551T>C	c.(550-552)gTc>gCc	p.V184A	INTS4_ENST00000529807.1_Missense_Mutation_p.V184A	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	184					snRNA processing (GO:0016180)	integrator complex (GO:0032039)			INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			ATCTTTTGTGACACTTTTCTC	0.403																																																	0			11											180.0	171.0	174.0					11																	77672105		2200	4292	6492	77349753	SO:0001583	missense	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.551T>C	11.37:g.77672105A>G	ENSP00000434466:p.Val184Ala	Somatic		Capture	Illumina HiSeq	Phase_I	77349753	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	ENST00000534064.1	37	CCDS31644.1	.	.	.	.	.	.	.	.	.	.	A	9.608	1.130557	0.21041	.	.	ENSG00000149262	ENST00000534064;ENST00000354849;ENST00000529807	T	0.64618	-0.11	4.48	3.35	0.38373	Armadillo-like helical (1);Armadillo-type fold (1);	0.228610	0.37761	N	0.001945	T	0.29850	0.0746	N	0.02011	-0.69	0.58432	D	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.04053	-1.0981	10	0.20519	T	0.43	-15.6565	7.126	0.25471	0.6796:0.0:0.3204:0.0	.	184	Q96HW7	INT4_HUMAN	A	184;35;184	ENSP00000434466:V184A	ENSP00000346913:V35A	V	-	2	0	INTS4	77349753	0.231000	0.23751	1.000000	0.80357	0.998000	0.95712	0.269000	0.18589	0.855000	0.35359	0.528000	0.53228	GTC		INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390927.1	NM_033547	
C11orf88	399949	hgsc.bcm.edu	37	11	111404521	111404521	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:111404521A>G	ENST00000375618.4	+	4	390	c.390A>G	c.(388-390)gaA>gaG	p.E130E	C11orf88_ENST00000332814.6_Silent_p.E157E|C11orf88_ENST00000529167.1_Silent_p.E157E	NM_001100388.1	NP_001093858.1	Q6PI97	CK088_HUMAN	chromosome 11 open reading frame 88	130										endometrium(1)|large_intestine(3)|lung(2)	6						AAAGAGAAGAAAGGATCTCGG	0.348																																																	0			11											81.0	77.0	78.0					11																	111404521		1802	4078	5880	110909731	SO:0001819	synonymous_variant	399949			BC039505, AK128145	CCDS41712.1, CCDS41713.1	11q23.1	2012-08-10			ENSG00000183644	ENSG00000183644			25061	protein-coding gene	gene with protein product	"""hypothetical gene supported by BC039505"""					12477932	Standard	NM_001100388		Approved	FLJ46266	uc009yyd.3	Q6PI97	OTTHUMG00000166720	ENST00000375618.4:c.390A>G	11.37:g.111404521A>G		Somatic		Capture	Illumina HiSeq	Phase_I	110909731	E9PAN0|Q6ZRL3	Silent	SNP	ENST00000375618.4	37	CCDS41713.1																																																																																				C11orf88-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391181.1	NM_001100388	
UBASH3B	84959	hgsc.bcm.edu	37	11	122678801	122678801	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:122678801G>A	ENST00000284273.5	+	13	2104	c.1729G>A	c.(1729-1731)Gca>Aca	p.A577T		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	577	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		TGTGGCCCACGCATCTTCCCT	0.458																																																	0			11											346.0	330.0	335.0					11																	122678801		2202	4299	6501	122184011	SO:0001583	missense	84959			AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1729G>A	11.37:g.122678801G>A	ENSP00000284273:p.Ala577Thr	Somatic		Capture	Illumina HiSeq	Phase_I	122184011	Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Missense_Mutation	SNP	ENST00000284273.5	37	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	G	36	5.660298	0.96734	.	.	ENSG00000154127	ENST00000284273	T	0.31769	1.48	5.85	5.85	0.93711	Histidine phosphatase superfamily, clade-1 (1);	0.000000	0.85682	D	0.000000	T	0.50292	0.1607	L	0.49350	1.555	0.80722	D	1	D	0.76494	0.999	P	0.62184	0.899	T	0.43475	-0.9389	10	0.66056	D	0.02	-18.5526	19.7681	0.96350	0.0:0.0:1.0:0.0	.	577	Q8TF42	UBS3B_HUMAN	T	577	ENSP00000284273:A577T	ENSP00000284273:A577T	A	+	1	0	UBASH3B	122184011	1.000000	0.71417	0.974000	0.42286	0.998000	0.95712	9.394000	0.97261	2.768000	0.95171	0.655000	0.94253	GCA		UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873	
C11orf63	79864	hgsc.bcm.edu	37	11	122774668	122774668	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:122774668G>A	ENST00000531316.1	+	2	472	c.380G>A	c.(379-381)cGc>cAc	p.R127H	C11orf63_ENST00000227349.2_Missense_Mutation_p.R127H|C11orf63_ENST00000307257.6_Missense_Mutation_p.R127H			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	127					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TCAGACCTCCGCTATGACCCG	0.458																																																	0			11											150.0	169.0	162.0					11																	122774668		2202	4299	6501	122279878	SO:0001583	missense	79864			BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.380G>A	11.37:g.122774668G>A	ENSP00000431669:p.Arg127His	Somatic		Capture	Illumina HiSeq	Phase_I	122279878	A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302189	0.81136	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.60424	0.19;0.19	5.73	4.79	0.61399	.	0.241265	0.29040	N	0.013323	T	0.72309	0.3444	M	0.73598	2.24	0.34124	D	0.664445	D;D	0.89917	1.0;1.0	D;D	0.68765	0.947;0.96	T	0.81470	-0.0918	10	0.72032	D	0.01	-9.0668	10.0669	0.42308	0.1685:0.0:0.8315:0.0	.	127;127	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	H	127	ENSP00000227349:R127H;ENSP00000431669:R127H	ENSP00000227349:R127H	R	+	2	0	C11orf63	122279878	0.986000	0.35501	0.944000	0.38274	0.975000	0.68041	2.433000	0.44793	1.341000	0.45600	0.655000	0.94253	CGC		C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
OR8B12	219858	hgsc.bcm.edu	37	11	124413357	124413357	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:124413357A>G	ENST00000306842.2	-	1	218	c.194T>C	c.(193-195)cTc>cCc	p.L65P		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	65						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		TATTAAAGAGAGGTTAAAAAG	0.453																																																	0			11											81.0	79.0	80.0					11																	124413357		2201	4299	6500	123918567	SO:0001583	missense	219858				CCDS31711.1	11q24.2	2013-09-24			ENSG00000170953	ENSG00000170953		"""GPCR / Class A : Olfactory receptors"""	15307	protein-coding gene	gene with protein product							Standard	NM_001005195		Approved		uc010sam.2	Q8NGG6	OTTHUMG00000165922	ENST00000306842.2:c.194T>C	11.37:g.124413357A>G	ENSP00000307159:p.Leu65Pro	Somatic		Capture	Illumina HiSeq	Phase_I	123918567	B2RNF6|Q6IEW8|Q96RC7	Missense_Mutation	SNP	ENST00000306842.2	37	CCDS31711.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.132326	0.37630	.	.	ENSG00000170953	ENST00000306842	T	0.00591	6.35	3.77	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45126	D	0.000386	T	0.05090	0.0136	H	0.97291	3.975	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.00975	-1.1494	10	0.87932	D	0	.	12.4298	0.55567	1.0:0.0:0.0:0.0	.	65	Q8NGG6	OR8BC_HUMAN	P	65	ENSP00000307159:L65P	ENSP00000307159:L65P	L	-	2	0	OR8B12	123918567	0.958000	0.32768	0.490000	0.27465	0.115000	0.19883	8.850000	0.92190	1.940000	0.56252	0.528000	0.53228	CTC		OR8B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387061.1		
GCM2	9247	hgsc.bcm.edu	37	6	10874877	10874877	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:10874877A>G	ENST00000379491.4	-	5	1019	c.872T>C	c.(871-873)cTt>cCt	p.L291P	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	291					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				ATCCTTATAAAGGGTGGGATA	0.418																																																	0			6											202.0	195.0	198.0					6																	10874877		2203	4300	6503	10982863	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.872T>C	6.37:g.10874877A>G	ENSP00000368805:p.Leu291Pro	Somatic		Capture	Illumina HiSeq	Phase_I	10982863	D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	A	8.744	0.919645	0.17982	.	.	ENSG00000124827	ENST00000379491	T	0.71934	-0.61	5.5	5.5	0.81552	.	0.537761	0.19969	N	0.102035	T	0.57725	0.2073	M	0.73962	2.25	0.80722	D	1	B	0.32918	0.39	B	0.24541	0.054	T	0.67799	-0.5577	10	0.87932	D	0	-15.1929	12.9918	0.58622	0.8658:0.1342:0.0:0.0	.	291	O75603	GCM2_HUMAN	P	291	ENSP00000368805:L291P	ENSP00000368805:L291P	L	-	2	0	GCM2	10982863	0.995000	0.38212	0.032000	0.17829	0.196000	0.23810	4.205000	0.58466	2.213000	0.71641	0.528000	0.53228	CTT		GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1		
CD83	9308	hgsc.bcm.edu	37	6	14133902	14133902	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:14133902A>T	ENST00000379153.3	+	4	576	c.405A>T	c.(403-405)gaA>gaT	p.E135D		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	135					defense response (GO:0006952)|humoral immune response (GO:0006959)|negative regulation of interleukin-4 production (GO:0032713)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|response to organic cyclic compound (GO:0014070)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				AGCGTAAAGAAGAGACTTTTA	0.363																																																	0			6											124.0	127.0	126.0					6																	14133902		2203	4300	6503	14241881	SO:0001583	missense	9308			Z11697	CCDS4532.1, CCDS75403.1	6p23	2013-01-11	2006-03-31		ENSG00000112149	ENSG00000112149		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1703	protein-coding gene	gene with protein product		604534	"""CD83 antigen (activated B lymphocytes, immunoglobulin superfamily)"", ""CD83 molecule """			1378080, 8422464	Standard	NM_001251901		Approved	HB15, BL11	uc003nbi.3	Q01151	OTTHUMG00000014283	ENST00000379153.3:c.405A>T	6.37:g.14133902A>T	ENSP00000368450:p.Glu135Asp	Somatic		Capture	Illumina HiSeq	Phase_I	14241881	Q5THX9	Missense_Mutation	SNP	ENST00000379153.3	37	CCDS4532.1	.	.	.	.	.	.	.	.	.	.	A	10.69	1.420332	0.25552	.	.	ENSG00000112149	ENST00000379153	T	0.46451	0.87	5.41	-0.0289	0.13920	.	0.628414	0.16448	N	0.213986	T	0.07773	0.0195	N	0.19112	0.55	0.09310	N	1	B	0.14012	0.009	B	0.15052	0.012	T	0.33369	-0.9871	10	0.24483	T	0.36	-10.1907	3.9728	0.09460	0.5758:0.0:0.2736:0.1506	.	135	Q01151	CD83_HUMAN	D	135	ENSP00000368450:E135D	ENSP00000368450:E135D	E	+	3	2	CD83	14241881	0.583000	0.26757	0.007000	0.13788	0.006000	0.05464	0.466000	0.22019	0.120000	0.18254	-0.250000	0.11733	GAA		CD83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039916.1		
SCGN	10590	hgsc.bcm.edu	37	6	25665248	25665248	+	Silent	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:25665248G>T	ENST00000377961.2	+	4	492	c.324G>T	c.(322-324)gtG>gtT	p.V108V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	108	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACAGCAGCGTGGAGTTTATGC	0.493																																																	0			6											117.0	107.0	110.0					6																	25665248		2203	4300	6503	25773227	SO:0001819	synonymous_variant	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.324G>T	6.37:g.25665248G>T		Somatic		Capture	Illumina HiSeq	Phase_I	25773227	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP	ENST00000377961.2	37	CCDS4561.1																																																																																				SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040067.1		
PSORS1C1	170679	hgsc.bcm.edu	37	6	31085067	31085067	+	Intron	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:31085067C>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Nonsense_Mutation_p.G109*|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TACCCCGTTCCTGGCTTAAAA	0.592																																																	0			6											22.0	17.0	18.0					6																	31085067		1904	3805	5709	31193046	SO:0001627	intron_variant	1041			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+2399C>A	6.37:g.31085067C>A		Somatic		Capture	Illumina HiSeq	Phase_I	31193046	B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Nonsense_Mutation	SNP	ENST00000259881.9	37	CCDS34390.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117013	0.77323	.	.	ENSG00000204539	ENST00000376288	.	.	.	4.88	4.88	0.63580	.	0.353789	0.20525	N	0.090635	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.8605	0.63557	0.0:1.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000365465:G109X	G	-	1	0	CDSN	31193046	0.940000	0.31905	1.000000	0.80357	0.766000	0.43426	3.954000	0.56708	2.422000	0.82143	0.549000	0.68633	GGA		PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076110.3	NM_014068	
PRRC2A	7916	hgsc.bcm.edu	37	6	31592061	31592061	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:31592061C>T	ENST00000376033.2	+	4	548	c.314C>T	c.(313-315)cCg>cTg	p.P105L	PRRC2A_ENST00000469577.1_3'UTR|PRRC2A_ENST00000376007.4_Missense_Mutation_p.P105L|SNORA38_ENST00000363946.1_RNA	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	105	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACCGCTCAGCCGCCGGAATCG	0.617																																																	0			6											77.0	90.0	86.0					6																	31592061		1510	2709	4219	31700040	SO:0001583	missense	0			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.314C>T	6.37:g.31592061C>T	ENSP00000365201:p.Pro105Leu	Somatic		Capture	Illumina HiSeq	Phase_I	31700040	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870238	0.33069	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.21543	2.0;2.0	4.81	0.758	0.18432	BAT2, N-terminal (1);	0.453490	0.18905	N	0.127933	T	0.04679	0.0127	N	0.20986	0.625	0.53005	D	0.999964	B	0.13594	0.008	B	0.09377	0.004	T	0.17289	-1.0374	10	0.87932	D	0	-0.8622	5.1672	0.15092	0.3985:0.4448:0.0:0.1567	.	105	P48634	PRC2A_HUMAN	L	105	ENSP00000365175:P105L;ENSP00000365201:P105L	ENSP00000365175:P105L	P	+	2	0	PRRC2A	31700040	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.319000	0.19522	0.233000	0.21120	-0.145000	0.13849	CCG		PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686	
HSPA1L	3305	hgsc.bcm.edu	37	6	31778941	31778941	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:31778941T>C	ENST00000375654.4	-	2	998	c.809A>G	c.(808-810)gAg>gGg	p.E270G	HSPA1L_ENST00000417199.3_Missense_Mutation_p.E270G	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	270					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGGCCCTCTCGCAGGCGGT	0.537																																																	0			6											62.0	68.0	66.0					6																	31778941		2203	4300	6503	31886920	SO:0001583	missense	3305			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.809A>G	6.37:g.31778941T>C	ENSP00000364805:p.Glu270Gly	Somatic		Capture	Illumina HiSeq	Phase_I	31886920	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	T	19.67	3.871028	0.72065	.	.	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.18502	2.21;2.21	5.4	5.4	0.78164	.	0.000000	0.35124	N	0.003437	T	0.64394	0.2594	H	0.99997	5.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83492	0.0070	10	0.87932	D	0	-3.403	13.4225	0.61007	0.0:0.0:0.0:1.0	.	270	P34931	HS71L_HUMAN	G	270;270;215;160	ENSP00000364805:E270G;ENSP00000387691:E270G	ENSP00000364804:E215G	E	-	2	0	HSPA1L	31886920	1.000000	0.71417	0.974000	0.42286	0.866000	0.49608	7.868000	0.87116	2.267000	0.75376	0.477000	0.44152	GAG		HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
NFKBIE	4794	hgsc.bcm.edu	37	6	44228245	44228245	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:44228245C>A	ENST00000275015.5	-	4	1139	c.1140G>T	c.(1138-1140)caG>caT	p.Q380H	SLC35B2_ENST00000537814.1_5'Flank|SLC35B2_ENST00000393812.3_5'Flank|SLC35B2_ENST00000538577.1_5'Flank|SLC35B2_ENST00000495706.1_5'Flank|SLC35B2_ENST00000393810.1_5'Flank	NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	380					cytoplasmic sequestering of transcription factor (GO:0042994)|D-serine transport (GO:0042942)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTGGTTCTTCTGAAGGGTGG	0.587																																																	0			6											163.0	156.0	158.0					6																	44228245		2203	4300	6503	44336223	SO:0001583	missense	4794			U91616	CCDS34463.1	6p21.1	2013-01-10			ENSG00000146232	ENSG00000146232		"""Ankyrin repeat domain containing"""	7799	protein-coding gene	gene with protein product		604548				9135156	Standard	NM_004556		Approved	IKBE	uc003oxe.1	O00221	OTTHUMG00000014762	ENST00000275015.5:c.1140G>T	6.37:g.44228245C>A	ENSP00000275015:p.Gln380His	Somatic		Capture	Illumina HiSeq	Phase_I	44336223	Q5T9V9	Missense_Mutation	SNP	ENST00000275015.5	37	CCDS34463.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431529	0.25813	.	.	ENSG00000146232	ENST00000275015	T	0.63255	-0.03	5.05	5.05	0.67936	Ankyrin repeat-containing domain (3);	0.519021	0.19149	N	0.121482	T	0.20820	0.0501	N	0.04373	-0.215	0.35412	D	0.792505	B	0.21225	0.053	B	0.24541	0.054	T	0.09292	-1.0681	10	0.18276	T	0.48	-20.2573	10.7917	0.46436	0.0:0.9115:0.0:0.0885	.	380	O00221	IKBE_HUMAN	H	380	ENSP00000275015:Q380H	ENSP00000275015:Q380H	Q	-	3	2	NFKBIE	44336223	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.605000	0.46283	2.336000	0.79503	0.655000	0.94253	CAG		NFKBIE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040733.2		
DOPEY1	23033	hgsc.bcm.edu	37	6	83847225	83847225	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:83847225A>G	ENST00000349129.2	+	21	3724	c.3464A>G	c.(3463-3465)gAc>gGc	p.D1155G	DOPEY1_ENST00000369739.3_Missense_Mutation_p.D1146G|DOPEY1_ENST00000237163.5_Missense_Mutation_p.D1136G	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1155			D -> H (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTAGTATTTGACCTGATATGT	0.418																																																	0			6											81.0	79.0	80.0					6																	83847225		2203	4299	6502	83903944	SO:0001583	missense	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3464A>G	6.37:g.83847225A>G	ENSP00000195654:p.Asp1155Gly	Somatic		Capture	Illumina HiSeq	Phase_I	83903944	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Missense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	A	16.04	3.010809	0.54361	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	T;T	0.26373	1.75;1.74	5.69	5.69	0.88448	.	0.054565	0.64402	D	0.000001	T	0.19805	0.0476	L	0.27053	0.805	0.80722	D	1	D;P;P	0.57899	0.981;0.935;0.935	P;B;B	0.52554	0.702;0.411;0.411	T	0.01697	-1.1293	10	0.52906	T	0.07	.	15.9429	0.79771	1.0:0.0:0.0:0.0	.	1046;1146;1155	E1P545;B2RWN9;Q5JWR5	.;.;DOP1_HUMAN	G	1155;1136;1136	ENSP00000195654:D1155G;ENSP00000237163:D1136G	ENSP00000237163:D1136G	D	+	2	0	DOPEY1	83903944	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.491000	0.90468	2.161000	0.67846	0.377000	0.23210	GAC		DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018	
ZNF292	23036	hgsc.bcm.edu	37	6	87968047	87968047	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:87968047T>C	ENST00000369577.3	+	8	4743	c.4700T>C	c.(4699-4701)tTg>tCg	p.L1567S	ZNF292_ENST00000339907.4_Missense_Mutation_p.L1562S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1567						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTAGCAGCTTGCCTGTTTTT	0.438																																																	0			6											77.0	75.0	76.0					6																	87968047		1965	4152	6117	88024766	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.4700T>C	6.37:g.87968047T>C	ENSP00000358590:p.Leu1567Ser	Somatic		Capture	Illumina HiSeq	Phase_I	88024766	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595081	0.46318	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.11063	2.81;2.82	6.07	6.07	0.98685	.	0.209202	0.30714	N	0.009035	T	0.07908	0.0198	N	0.24115	0.695	0.38974	D	0.9588	D	0.57899	0.981	P	0.49637	0.617	T	0.08554	-1.0716	10	0.72032	D	0.01	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	1567	O60281	ZN292_HUMAN	S	1567;1562	ENSP00000358590:L1567S;ENSP00000342847:L1562S	ENSP00000342847:L1562S	L	+	2	0	ZNF292	88024766	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	5.945000	0.70226	2.326000	0.78906	0.533000	0.62120	TTG		ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021	
HACE1	57531	hgsc.bcm.edu	37	6	105297107	105297107	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:105297107T>A	ENST00000262903.4	-	4	512	c.236A>T	c.(235-237)gAa>gTa	p.E79V	HACE1_ENST00000369125.2_Missense_Mutation_p.E79V	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	79					cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AACCAAGCATTCCACCGATCC	0.333																																																	0			6											118.0	102.0	107.0					6																	105297107		2203	4300	6503	105403800	SO:0001583	missense	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.236A>T	6.37:g.105297107T>A	ENSP00000262903:p.Glu79Val	Somatic		Capture	Illumina HiSeq	Phase_I	105403800	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643271	0.87859	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000519645;ENST00000524020	T;T;T;T	0.70516	-0.4;-0.4;-0.49;-0.4	5.84	5.84	0.93424	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.82604	0.5073	M	0.83118	2.625	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.78314	0.991;0.991	D	0.85693	0.1308	10	0.87932	D	0	.	15.8722	0.79129	0.0:0.0:0.0:1.0	.	79;79	E9PGP0;Q8IYU2	.;HACE1_HUMAN	V	79;79;79;45	ENSP00000262903:E79V;ENSP00000358121:E79V;ENSP00000429765:E79V;ENSP00000427901:E45V	ENSP00000262903:E79V	E	-	2	0	HACE1	105403800	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.130000	0.77235	2.232000	0.73038	0.533000	0.62120	GAA		HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095	
HDAC2	3066	hgsc.bcm.edu	37	6	114277793	114277793	+	Silent	SNP	G	G	A	rs373430125		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:114277793G>A	ENST00000519065.1	-	4	724	c.348C>T	c.(346-348)ggC>ggT	p.G116G	HDAC2_ENST00000519108.1_Silent_p.G86G|HDAC2_ENST00000398283.2_Silent_p.G210G|HDAC2_ENST00000368632.2_Silent_p.G86G			Q92769	HDAC2_HUMAN	histone deacetylase 2	116	Histone deacetylase.				ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	CAACTGAACCGCCAGTTGAGA	0.358																																																	0			6						G		0,3712		0,0,1856	71.0	70.0	70.0		348	3.4	1.0	6		70	1,8169		0,1,4084	no	coding-synonymous	HDAC2	NM_001527.3		0,1,5940	AA,AG,GG		0.0122,0.0,0.0084		116/489	114277793	1,11881	1856	4085	5941	114384486	SO:0001819	synonymous_variant	3066			U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.348C>T	6.37:g.114277793G>A		Somatic		Capture	Illumina HiSeq	Phase_I	114384486	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Silent	SNP	ENST00000519065.1	37	CCDS43493.2																																																																																				HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		
FRK	2444	hgsc.bcm.edu	37	6	116325143	116325143	+	Silent	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:116325143G>T	ENST00000606080.1	-	2	809	c.363C>A	c.(361-363)atC>atA	p.I121I	FRK_ENST00000538210.1_5'Flank	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related Src family tyrosine kinase	121	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)	Regorafenib(DB08896)	CTGATCTTCCGATTGCTCCAA	0.343																																																	0			6											63.0	63.0	63.0					6																	116325143		2203	4299	6502	116431836	SO:0001819	synonymous_variant	2444			U00803	CCDS5103.1	6q21-q22.3	2014-06-25	2014-06-25		ENSG00000111816	ENSG00000111816	2.7.10.1	"""SH2 domain containing"""	3955	protein-coding gene	gene with protein product		606573	"""PTK5 protein tyrosine kinase 5"", ""fyn-related kinase"""	PTK5		7510261	Standard	NM_002031		Approved	RAK, GTK	uc003pwi.1	P42685	OTTHUMG00000015424	ENST00000606080.1:c.363C>A	6.37:g.116325143G>T		Somatic		Capture	Illumina HiSeq	Phase_I	116431836	B4DY49|Q13128|Q9NTR5	Silent	SNP	ENST00000606080.1	37	CCDS5103.1																																																																																				FRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041924.2	NM_002031	
MCM9	254394	hgsc.bcm.edu	37	6	119238802	119238802	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:119238802T>C	ENST00000316316.6	-	5	1114	c.828A>G	c.(826-828)tcA>tcG	p.S276S	MCM9_ENST00000316068.3_Silent_p.S276S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	276					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TGATGATCCCTGAGGACTGCT	0.428																																																	0			6											123.0	115.0	118.0					6																	119238802		2203	4300	6503	119280501	SO:0001819	synonymous_variant	254394			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.828A>G	6.37:g.119238802T>C		Somatic		Capture	Illumina HiSeq	Phase_I	119280501	B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Silent	SNP	ENST00000316316.6	37	CCDS56447.1																																																																																				MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042005.4	NM_153255	
SGK1	6446	hgsc.bcm.edu	37	6	134494255	134494255	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:134494255T>C	ENST00000237305.7	-	6	543	c.455A>G	c.(454-456)aAg>aGg	p.K152R	SGK1_ENST00000475719.2_Intron|SGK1_ENST00000367858.5_Missense_Mutation_p.K247R|SGK1_ENST00000367857.5_Missense_Mutation_p.K142R|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.K180R|SGK1_ENST00000413996.3_Missense_Mutation_p.K166R	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	152	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.			K -> R (in Ref. 4; CAR58096). {ECO:0000305}.	apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CTTCACATTCTTCAACAGAAC	0.438																																																	0			6											100.0	101.0	101.0					6																	134494255		2203	4300	6503	134535948	SO:0001583	missense	6446			AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.455A>G	6.37:g.134494255T>C	ENSP00000237305:p.Lys152Arg	Somatic		Capture	Illumina HiSeq	Phase_I	134535948	B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166389	0.78339	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	6.04	6.04	0.98038	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	N	0.17800	0.525	0.80722	D	1	B;D;B;B;B	0.76494	0.329;0.999;0.103;0.317;0.125	B;D;B;B;B	0.87578	0.196;0.998;0.074;0.247;0.296	T	0.70092	-0.4967	10	0.48119	T	0.1	.	16.5885	0.84745	0.0:0.0:0.0:1.0	.	180;166;142;247;152	O00141-5;O00141-3;O00141-4;O00141-2;O00141	.;.;.;.;SGK1_HUMAN	R	247;166;152;142;180	ENSP00000356832:K247R;ENSP00000396242:K166R;ENSP00000237305:K152R;ENSP00000356831:K142R;ENSP00000434450:K180R	ENSP00000237305:K152R	K	-	2	0	SGK1	134535948	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.988000	0.88194	2.317000	0.78254	0.460000	0.39030	AAG		SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		
SYNE1	23345	hgsc.bcm.edu	37	6	152639268	152639268	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:152639268A>G	ENST00000367255.5	-	86	17121	c.16520T>C	c.(16519-16521)cTt>cCt	p.L5507P	SYNE1_ENST00000423061.1_Missense_Mutation_p.L5436P|SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5507P|SYNE1_ENST00000448038.1_Missense_Mutation_p.L5436P|SYNE1_ENST00000356820.4_Missense_Mutation_p.L31P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5507			L -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.L5507R(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGCTGGTGAAGTTCAGTCAG	0.453										HNSCC(10;0.0054)																																							3	Substitution - Missense(3)	large_intestine(3)	6											266.0	234.0	245.0					6																	152639268		2203	4300	6503	152680961	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.16520T>C	6.37:g.152639268A>G	ENSP00000356224:p.Leu5507Pro	Somatic		Capture	Illumina HiSeq	Phase_I	152680961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973879	0.74246	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000356820	T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000039	T	0.48333	0.1494	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.76071	0.987;0.971;0.971;0.986	T	0.40961	-0.9535	10	0.30854	T	0.27	.	15.8861	0.79251	1.0:0.0:0.0:0.0	.	5507;5507;5507;5436	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	P	5507;5436;5507;5436;31	ENSP00000356224:L5507P;ENSP00000396024:L5436P;ENSP00000265368:L5507P;ENSP00000390975:L5436P;ENSP00000349276:L31P	ENSP00000265368:L5507P	L	-	2	0	SYNE1	152680961	0.992000	0.36948	0.995000	0.50966	0.771000	0.43674	8.344000	0.90055	2.156000	0.67533	0.533000	0.62120	CTT		SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
PLG	5340	hgsc.bcm.edu	37	6	161152156	161152156	+	Missense_Mutation	SNP	G	G	A	rs574500945		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:161152156G>A	ENST00000308192.9	+	11	1393	c.1330G>A	c.(1330-1332)Gtc>Atc	p.V444I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	444	Kringle 4. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V444I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACCCCAGCGTCAGGTGGGA	0.502																																																	1	Substitution - Missense(1)	endometrium(1)	6											92.0	93.0	93.0					6																	161152156		2203	4300	6503	161072146	SO:0001583	missense	5340			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1330G>A	6.37:g.161152156G>A	ENSP00000308938:p.Val444Ile	Somatic		Capture	Illumina HiSeq	Phase_I	161072146	Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.448919	0.43531	.	.	ENSG00000122194	ENST00000308192	T	0.62788	-0.0	5.11	4.24	0.50183	Kringle (5);Kringle-like fold (1);	0.000000	0.35466	U	0.003195	T	0.37544	0.1007	L	0.50919	1.6	0.19945	N	0.999944	P	0.40638	0.725	B	0.40375	0.327	T	0.13791	-1.0496	10	0.31617	T	0.26	.	9.9467	0.41613	0.1681:0.0:0.8319:0.0	.	444	P00747	PLMN_HUMAN	I	444	ENSP00000308938:V444I	ENSP00000308938:V444I	V	+	1	0	PLG	161072146	1.000000	0.71417	0.012000	0.15200	0.487000	0.33371	4.401000	0.59716	1.139000	0.42245	0.563000	0.77884	GTC		PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301	
MAP3K4	4216	hgsc.bcm.edu	37	6	161530789	161530789	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:161530789A>G	ENST00000392142.4	+	23	4387	c.4239A>G	c.(4237-4239)gaA>gaG	p.E1413E	MAP3K4_ENST00000366920.2_Silent_p.E1409E|MAP3K4_ENST00000366919.2_Silent_p.E1363E|MAP3K4_ENST00000348824.7_Silent_p.E1359E	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1413	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> Q (in an ovarian serous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCCCACAGGAAGAAATGTACA	0.453																																																	0			6											103.0	98.0	100.0					6																	161530789		2203	4300	6503	161450779	SO:0001819	synonymous_variant	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4239A>G	6.37:g.161530789A>G		Somatic		Capture	Illumina HiSeq	Phase_I	161450779	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
TP53	7157	hgsc.bcm.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R282W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	Somatic		Capture	Illumina HiSeq	Phase_I	7517819	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYO15A	51168	hgsc.bcm.edu	37	17	18023659	18023659	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:18023659C>T	ENST00000205890.5	+	2	1883	c.1545C>T	c.(1543-1545)gaC>gaT	p.D515D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	515					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGAAGAGGACGAGGAGGAGC	0.667																																																	0			17											30.0	37.0	35.0					17																	18023659		2021	4164	6185	17964384	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1545C>T	17.37:g.18023659C>T		Somatic		Capture	Illumina HiSeq	Phase_I	17964384	B4DFC7	Silent	SNP	ENST00000205890.5	37	CCDS42271.1																																																																																				MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239	
SUPT6H	6830	hgsc.bcm.edu	37	17	27030880	27030880	+	IGR	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:27030880A>G	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.L236S|PROCA1_ENST00000439862.3_Missense_Mutation_p.L238S|PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000579650.1_5'Flank	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L236W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTTCTTAGTCAACTGGCCTTT	0.478																																																	1	Substitution - Missense(1)	ovary(1)	17											99.0	104.0	102.0					17																	27030880		2203	4300	6503	24055007	SO:0001628	intergenic_variant	147011			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030880A>G		Somatic		Capture	Illumina HiSeq	Phase_I	24055007	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	15.03	2.711603	0.48517	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.04275	3.66;3.66	4.74	4.74	0.60224	.	0.402757	0.20110	N	0.099021	T	0.10594	0.0259	L	0.34521	1.04	0.09310	N	0.999994	P;D;D	0.61080	0.952;0.989;0.989	P;P;P	0.61722	0.521;0.858;0.893	T	0.06935	-1.0799	10	0.66056	D	0.02	-2.3458	10.8053	0.46514	1.0:0.0:0.0:0.0	.	264;238;236	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	S	236;238;264	ENSP00000301039:L236S;ENSP00000411400:L238S	ENSP00000301039:L236S	L	-	2	0	PROCA1	24055007	0.287000	0.24315	0.378000	0.26068	0.745000	0.42441	4.909000	0.63314	2.101000	0.63845	0.533000	0.62120	TTG		SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
CORO6	84940	hgsc.bcm.edu	37	17	27946079	27946079	+	Splice_Site	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:27946079T>A	ENST00000445145.2	-	3	451	c.450A>T	c.(448-450)gcA>gcT	p.A150A	CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Splice_Site_p.A150A|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000584969.1_Splice_Site_p.A150A|CORO6_ENST00000388767.3_Splice_Site_p.A150A|CORO6_ENST00000580212.1_Splice_Site_p.A150A|RP11-68I3.10_ENST00000582367.1_RNA|RP11-68I3.2_ENST00000581474.1_RNA			Q6QEF8	CORO6_HUMAN	coronin 6	150					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						CCCCCAGACCTGCACTGAGCA	0.602																																																	0			17											39.0	42.0	41.0					17																	27946079		2043	4224	6267	24970205	SO:0001630	splice_region_variant	84940			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.451+1A>T	17.37:g.27946079T>A		Somatic		Capture	Illumina HiSeq	Phase_I	24970205	B3KU26|Q71MF3|Q8WYH7|Q96K02	Silent	SNP	ENST00000445145.2	37																																																																																					CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000447831.1	NM_032854	Silent
NF1	4763	hgsc.bcm.edu	37	17	29652986	29652986	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:29652986T>C	ENST00000358273.4	+	37	5367	c.4984T>C	c.(4984-4986)Tgg>Cgg	p.W1662R	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Missense_Mutation_p.W1641R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1662	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Lipid binding.				actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTCTCTAAGTGGTTTGTTGT	0.428			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	17											155.0	141.0	146.0					17																	29652986		2203	4300	6503	26677112	SO:0001583	missense	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4984T>C	17.37:g.29652986T>C	ENSP00000351015:p.Trp1662Arg	Somatic		Capture	Illumina HiSeq	Phase_I	26677112	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569342	0.86439	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.63255	-0.03;-0.03;-0.03	5.83	5.83	0.93111	Cellular retinaldehyde-binding/triple function, C-terminal (2);Armadillo-type fold (1);	0.131866	0.56097	D	0.000025	T	0.80276	0.4593	M	0.79805	2.47	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.83275	0.99;0.996;0.987	T	0.82878	-0.0239	10	0.72032	D	0.01	.	15.3809	0.74654	0.0:0.0:0.0:1.0	.	691;1641;1662	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	R	1662;1641;1307	ENSP00000351015:W1662R;ENSP00000348498:W1641R;ENSP00000389907:W1307R	ENSP00000348498:W1641R	W	+	1	0	NF1	26677112	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.665000	0.83852	2.240000	0.73641	0.528000	0.53228	TGG		NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
RHBDL3	162494	hgsc.bcm.edu	37	17	30611721	30611721	+	Missense_Mutation	SNP	G	G	A	rs201683603		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:30611721G>A	ENST00000269051.4	+	3	193	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RHBDL3_ENST00000538145.1_Missense_Mutation_p.R52Q|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	60	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGCAAGTTCCGGAGTCTTCTG	0.597																																																	0			17											78.0	72.0	74.0					17																	30611721		2203	4300	6503	27635834	SO:0001583	missense	162494			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.179G>A	17.37:g.30611721G>A	ENSP00000269051:p.Arg60Gln	Somatic		Capture	Illumina HiSeq	Phase_I	27635834	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	G	19.30	3.800390	0.70567	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145	T;T;T	0.72051	-0.62;-0.62;0.79	4.59	4.59	0.56863	EF-hand-like domain (1);	0.064498	0.64402	D	0.000010	T	0.70833	0.3269	N	0.20766	0.605	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;P;P	0.64144	0.922;0.73;0.876	T	0.66396	-0.5934	10	0.15952	T	0.53	-41.2652	17.6067	0.88040	0.0:0.0:1.0:0.0	.	60;52;60	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	Q	60;60;52	ENSP00000394849:R60Q;ENSP00000269051:R60Q;ENSP00000442092:R52Q	ENSP00000269051:R60Q	R	+	2	0	RHBDL3	27635834	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.671000	0.61590	2.375000	0.81037	0.563000	0.77884	CGG		RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
CDK12	51755	hgsc.bcm.edu	37	17	37676317	37676317	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:37676317A>G	ENST00000447079.4	+	11	3105	c.3072A>G	c.(3070-3072)gaA>gaG	p.E1024E	CDK12_ENST00000430627.2_Silent_p.E1024E	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1024					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAGATGTCGAACTCAGCAAAA	0.473			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17											131.0	111.0	118.0					17																	37676317		2203	4300	6503	34929843	SO:0001819	synonymous_variant	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.3072A>G	17.37:g.37676317A>G		Somatic		Capture	Illumina HiSeq	Phase_I	34929843	A7E2B2|B4DYX4|B9EIQ6|O94978	Silent	SNP	ENST00000447079.4	37	CCDS11337.1																																																																																				CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
IKZF3	22806	hgsc.bcm.edu	37	17	37985721	37985721	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:37985721C>A	ENST00000346872.3	-	3	143	c.82G>T	c.(82-84)Gac>Tac	p.D28Y	IKZF3_ENST00000377945.3_Missense_Mutation_p.D28Y|IKZF3_ENST00000467757.1_Missense_Mutation_p.D28Y|IKZF3_ENST00000351680.3_Missense_Mutation_p.D28Y|IKZF3_ENST00000377958.2_Missense_Mutation_p.D28Y|IKZF3_ENST00000350532.3_Missense_Mutation_p.D28Y|IKZF3_ENST00000377952.2_Missense_Mutation_p.D28Y|IKZF3_ENST00000346243.3_Missense_Mutation_p.D28Y|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000377944.3_Missense_Mutation_p.D28Y|IKZF3_ENST00000439016.2_Missense_Mutation_p.D28Y|IKZF3_ENST00000394189.2_Missense_Mutation_p.D28Y|IKZF3_ENST00000439167.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	28					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAACTGTAGTCATTCAAAACC	0.368																																																	0			17											129.0	109.0	116.0					17																	37985721		2203	4300	6503	35239247	SO:0001583	missense	22806			AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.82G>T	17.37:g.37985721C>A	ENSP00000344544:p.Asp28Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	35239247	B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	CCDS11346.1	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267381	0.59540	.	.	ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757	T;T;T;T;T;T;T;T;T;T	0.15487	3.21;2.92;2.42;2.96;2.91;2.6;3.21;3.27;3.12;4.08	5.44	4.45	0.53987	.	0.353037	0.23579	N	0.046661	T	0.24160	0.0585	N	0.24115	0.695	0.25432	N	0.988173	D;D;D;D;D;P;D;D;D;D;P	0.89917	0.998;1.0;1.0;0.999;1.0;0.94;0.999;0.972;0.995;0.999;0.952	D;D;D;P;D;P;D;P;P;D;P	0.83275	0.996;0.923;0.957;0.873;0.923;0.754;0.985;0.739;0.865;0.971;0.653	T	0.06463	-1.0825	10	0.31617	T	0.26	-15.1239	9.4108	0.38491	0.0:0.8963:0.0:0.1037	.	28;28;28;28;28;28;28;28;28;28;28	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9	.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN	Y	28	ENSP00000344544:D28Y;ENSP00000367180:D28Y;ENSP00000377741:D28Y;ENSP00000367179:D28Y;ENSP00000367194:D28Y;ENSP00000367188:D28Y;ENSP00000345622:D28Y;ENSP00000341977:D28Y;ENSP00000344471:D28Y;ENSP00000420463:D28Y	ENSP00000341977:D28Y	D	-	1	0	IKZF3	35239247	1.000000	0.71417	0.992000	0.48379	0.801000	0.45260	2.526000	0.45607	1.226000	0.43582	0.650000	0.86243	GAC		IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481	
KRT24	192666	hgsc.bcm.edu	37	17	38856477	38856477	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:38856477C>A	ENST00000264651.2	-	4	1070	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	338	Coil 2.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GATCTACCTGCTTGTTGAACC	0.532																																					GBM(61;380 1051 14702 23642 31441)												0			17											136.0	130.0	132.0					17																	38856477		2203	4300	6503	36110003	SO:0001583	missense	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.1014G>T	17.37:g.38856477C>A	ENSP00000264651:p.Lys338Asn	Somatic		Capture	Illumina HiSeq	Phase_I	36110003	Q9NXG7	Missense_Mutation	SNP	ENST00000264651.2	37	CCDS11372.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163724	0.57476	.	.	ENSG00000167916	ENST00000264651	T	0.79554	-1.28	5.86	4.89	0.63831	Prefoldin (1);Filament (1);	.	.	.	.	T	0.79329	0.4427	L	0.34521	1.04	0.38263	D	0.941945	P	0.50369	0.934	P	0.55303	0.773	T	0.80930	-0.1162	9	0.49607	T	0.09	.	9.2381	0.37479	0.0:0.7374:0.0:0.2626	.	338	Q2M2I5	K1C24_HUMAN	N	338	ENSP00000264651:K338N	ENSP00000264651:K338N	K	-	3	2	KRT24	36110003	0.014000	0.17966	1.000000	0.80357	0.539000	0.34962	-0.304000	0.08199	1.481000	0.48307	0.563000	0.77884	AAG		KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
EFTUD2	9343	hgsc.bcm.edu	37	17	42937325	42937325	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:42937325A>G	ENST00000426333.2	-	18	2105	c.1808T>C	c.(1807-1809)aTg>aCg	p.M603T	EFTUD2_ENST00000402521.3_Missense_Mutation_p.M568T|EFTUD2_ENST00000592576.1_Missense_Mutation_p.M593T|EFTUD2_ENST00000591382.1_Missense_Mutation_p.M603T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	603					gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.M603K(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCCATCAAGCATCTTGGGCAG	0.542																																					Ovarian(10;65 485 10258 29980 30707)												1	Substitution - Missense(1)	ovary(1)	17											146.0	128.0	134.0					17																	42937325		2203	4300	6503	40292851	SO:0001583	missense	9343			D21163	CCDS11489.1, CCDS45707.1, CCDS59295.1	17q21.31	2014-08-12			ENSG00000108883	ENSG00000108883			30858	protein-coding gene	gene with protein product	"""U5 snRNP specific protein, 116 kD"""	603892				9233818	Standard	NM_004247		Approved	U5-116KD, Snrp116, Snu114, SNRNP116	uc002ihn.2	Q15029	OTTHUMG00000179865	ENST00000426333.2:c.1808T>C	17.37:g.42937325A>G	ENSP00000392094:p.Met603Thr	Somatic		Capture	Illumina HiSeq	Phase_I	40292851	B4DK30|B4DMC0|D3DX58|K7EJ81|Q9BUR0	Missense_Mutation	SNP	ENST00000426333.2	37	CCDS11489.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.479213	0.84747	.	.	ENSG00000108883	ENST00000426333;ENST00000262414;ENST00000402521	T;T	0.73789	-0.78;-0.78	5.45	5.45	0.79879	Elongation factor G/III/V (1);	0.000000	0.85682	D	0.000000	D	0.89125	0.6626	H	0.94222	3.51	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.63703	0.917;0.917	D	0.92245	0.5804	10	0.87932	D	0	-8.6049	15.5233	0.75881	1.0:0.0:0.0:0.0	.	593;603	B4DMC0;Q15029	.;U5S1_HUMAN	T	603;593;568	ENSP00000392094:M603T;ENSP00000385873:M568T	ENSP00000262414:M593T	M	-	2	0	EFTUD2	40292851	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.297000	0.96120	2.071000	0.62044	0.454000	0.30748	ATG		EFTUD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448672.1	NM_004247	
CRHR1	1394	hgsc.bcm.edu	37	17	43912051	43912051	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:43912051G>A	ENST00000398285.3	+	14	1256	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	CRHR1_ENST00000339069.5_Missense_Mutation_p.E244K|CRHR1_ENST00000293493.7_Missense_Mutation_p.R215Q|CRHR1_ENST00000314537.5_Missense_Mutation_p.R390Q|CRHR1_ENST00000352855.5_Missense_Mutation_p.R350Q|CRHR1_ENST00000577353.1_Missense_Mutation_p.R376Q	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	419					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)	p.R390L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		ATCCGTGCCCGAGTGGCCCGT	0.632																																					Ovarian(110;57 1568 10207 38216 49865)												1	Substitution - Missense(1)	lung(1)	17											63.0	78.0	73.0					17																	43912051		2194	4295	6489	41267832	SO:0001583	missense	1394			L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.1256G>A	17.37:g.43912051G>A	ENSP00000381333:p.Arg419Gln	Somatic		Capture	Illumina HiSeq	Phase_I	41267832	B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	CCDS45712.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.501542|5.501542	0.96371|0.96371	.|.	.|.	ENSG00000120088|ENSG00000120088	ENST00000339069|ENST00000293493;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T|T;T;T;T	0.47869|0.68624	0.83|-0.34;-0.34;-0.34;-0.34	5.24|5.24	5.24|5.24	0.73138|0.73138	.|.	.|0.056668	.|0.64402	.|D	.|0.000001	T|T	0.80243|0.80243	0.4587|0.4587	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	B|D;D;D;D;D	0.21688|0.89917	0.059|1.0;1.0;0.996;1.0;0.999	B|D;D;P;D;D	0.14023|0.71184	0.01|0.972;0.97;0.783;0.958;0.939	T|T	0.80346|0.80346	-0.1421|-0.1421	9|10	0.87932|0.45353	D|T	0|0.12	.|.	16.3315|16.3315	0.83023|0.83023	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	244|376;419;289;350;390	B4DMR5|P34998-4;P34998;B3TIK8;P34998-3;P34998-2	.|.;CRFR1_HUMAN;.;.;.	K|Q	244|215;419;390;376;350	ENSP00000340522:E244K|ENSP00000293493:R215Q;ENSP00000381333:R419Q;ENSP00000326060:R390Q;ENSP00000344068:R350Q	ENSP00000340522:E244K|ENSP00000293493:R215Q	E|R	+|+	1|2	0|0	CRHR1|CRHR1	41267832|41267832	1.000000|1.000000	0.71417|0.71417	0.913000|0.913000	0.36048|0.36048	0.875000|0.875000	0.50365|0.50365	9.793000|9.793000	0.99091|0.99091	2.451000|2.451000	0.82905|0.82905	0.555000|0.555000	0.69702|0.69702	GAG|CGA		CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3		
CACNA1G	8913	hgsc.bcm.edu	37	17	48687292	48687292	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:48687292G>A	ENST00000359106.5	+	26	4755	c.4755G>A	c.(4753-4755)gcG>gcA	p.A1585A	CACNA1G_ENST00000503485.1_Silent_p.A1551A|CACNA1G_ENST00000515165.1_Silent_p.A1585A|CACNA1G_ENST00000514717.1_Silent_p.A1528A|CACNA1G_ENST00000502264.1_Silent_p.A1562A|CACNA1G_ENST00000360761.4_Silent_p.A1562A|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000507510.2_Silent_p.A1585A|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000514079.1_Silent_p.A1592A|CACNA1G_ENST00000505165.1_Silent_p.A1585A|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000507609.1_Silent_p.A1585A|CACNA1G_ENST00000354983.4_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1585					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCAGCGCTGCGTCAGGTACTG	0.572																																																	0			17											62.0	73.0	69.0					17																	48687292		2170	4260	6430	46042291	SO:0001819	synonymous_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4755G>A	17.37:g.48687292G>A		Somatic		Capture	Illumina HiSeq	Phase_I	46042291	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	37	CCDS45730.1																																																																																				CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
KIF2B	84643	hgsc.bcm.edu	37	17	51901682	51901682	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:51901682C>A	ENST00000268919.4	+	1	1444	c.1288C>A	c.(1288-1290)Cag>Aag	p.Q430K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	430	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCAGTGTTCCAGATCATCCT	0.507																																																	0			17											81.0	65.0	70.0					17																	51901682		2203	4300	6503	49256681	SO:0001583	missense	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1288C>A	17.37:g.51901682C>A	ENSP00000268919:p.Gln430Lys	Somatic		Capture	Illumina HiSeq	Phase_I	49256681	Q96MA2|Q9BXG6	Missense_Mutation	SNP	ENST00000268919.4	37	CCDS32685.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207479	0.58343	.	.	ENSG00000141200	ENST00000268919;ENST00000416491	T	0.17854	2.25	5.73	5.73	0.89815	Kinesin, motor domain (5);	0.000000	0.42682	D	0.000678	T	0.46171	0.1379	M	0.88570	2.965	0.58432	D	0.999995	P	0.46706	0.883	P	0.55011	0.766	T	0.50363	-0.8837	10	0.87932	D	0	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	430	Q8N4N8	KIF2B_HUMAN	K	430;318	ENSP00000268919:Q430K	ENSP00000268919:Q430K	Q	+	1	0	KIF2B	49256681	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.675000	0.84002	2.854000	0.98071	0.655000	0.94253	CAG		KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559	
MPO	4353	hgsc.bcm.edu	37	17	56348030	56348030	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:56348030C>T	ENST00000225275.3	-	12	2401	c.2225G>A	c.(2224-2226)aGg>aAg	p.R742K	MPO_ENST00000340482.3_Missense_Mutation_p.R774K	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	742					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R742M(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	GGAGGCTTCCCTCCAGGAAGC	0.542																																																	1	Substitution - Missense(1)	ovary(1)	17											84.0	74.0	77.0					17																	56348030		2203	4300	6503	53703029	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2225G>A	17.37:g.56348030C>T	ENSP00000225275:p.Arg742Lys	Somatic		Capture	Illumina HiSeq	Phase_I	53703029	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	7.850	0.723869	0.15439	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.72942	-0.7;-0.7	5.46	2.4	0.29515	.	0.150054	0.64402	N	0.000016	T	0.50205	0.1602	L	0.28192	0.835	0.26527	N	0.974324	B	0.02656	0.0	B	0.04013	0.001	T	0.27088	-1.0084	10	0.22706	T	0.39	-21.5625	5.3532	0.16047	0.1338:0.5748:0.0:0.2914	.	742	P05164	PERM_HUMAN	K	774;742	ENSP00000344419:R774K;ENSP00000225275:R742K	ENSP00000225275:R742K	R	-	2	0	MPO	53703029	0.030000	0.19436	0.862000	0.33874	0.244000	0.25665	0.302000	0.19192	0.354000	0.24105	-0.136000	0.14681	AGG		MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
IFNAR1	3454	hgsc.bcm.edu	37	21	34721523	34721523	+	Silent	SNP	C	C	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr21:34721523C>G	ENST00000270139.3	+	7	1067	c.915C>G	c.(913-915)ctC>ctG	p.L305L	IFNAR1_ENST00000442357.2_Silent_p.L305L|IFNAR1_ENST00000416947.2_Silent_p.L236L	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	305	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to virus (GO:0009615)|T cell activation (GO:0042110)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	type I interferon receptor activity (GO:0004905)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Natural alpha interferon(DB05258)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TTTACCTTCTCCGCGTACAAG	0.353																																					Esophageal Squamous(73;817 1211 32990 35667 42746)												0			21											111.0	113.0	113.0					21																	34721523		2203	4300	6503	33643393	SO:0001819	synonymous_variant	3454				CCDS13624.1	21q22.1	2008-05-02			ENSG00000142166	ENSG00000142166		"""Interferons"""	5432	protein-coding gene	gene with protein product		107450		IFNAR		8181059	Standard	NM_000629		Approved	IFRC	uc002yrn.3	P17181	OTTHUMG00000065126	ENST00000270139.3:c.915C>G	21.37:g.34721523C>G		Somatic		Capture	Illumina HiSeq	Phase_I	33643393	B2R6L9|B4DNT3|D3DSF0|Q53GW9|Q53H11|Q6PKD7|Q7M4L2|Q8WTZ2	Silent	SNP	ENST00000270139.3	37	CCDS13624.1																																																																																				IFNAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139823.4		
SLC5A3	6526	hgsc.bcm.edu	37	21	35468950	35468950	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr21:35468950T>A	ENST00000381151.3	+	2	1965	c.1453T>A	c.(1453-1455)Ttg>Atg	p.L485M	SLC5A3_ENST00000608209.1_Missense_Mutation_p.L485M|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	485					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AGCAGTCCGTTTGATACTGGC	0.498																																																	0			21											101.0	94.0	96.0					21																	35468950		2203	4300	6503	34390820	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1453T>A	21.37:g.35468950T>A	ENSP00000370543:p.Leu485Met	Somatic		Capture	Illumina HiSeq	Phase_I	34390820	O43489	Missense_Mutation	SNP	ENST00000381151.3	37	CCDS33549.1	.	.	.	.	.	.	.	.	.	.	T	3.875	-0.027164	0.07589	.	.	ENSG00000198743	ENST00000381151	T	0.63913	-0.07	5.87	2.03	0.26663	.	0.000000	0.64402	D	0.000006	T	0.36082	0.0954	N	0.11427	0.14	0.41129	D	0.985874	P	0.44044	0.825	B	0.43445	0.42	T	0.43015	-0.9417	10	0.02654	T	1	.	7.7139	0.28694	0.0:0.4674:0.0:0.5326	.	485	P53794	SC5A3_HUMAN	M	485	ENSP00000370543:L485M	ENSP00000370543:L485M	L	+	1	2	SLC5A3	34390820	0.926000	0.31397	0.782000	0.31804	0.994000	0.84299	1.359000	0.34113	0.402000	0.25451	0.529000	0.55759	TTG		SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141037.1		
RAB11FIP3	9727	hgsc.bcm.edu	37	16	532596	532596	+	Silent	SNP	C	C	T	rs184050293		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:532596C>T	ENST00000262305.4	+	4	1363	c.975C>T	c.(973-975)gaC>gaT	p.D325D	RAB11FIP3_ENST00000457159.1_Silent_p.D325D|RAB11FIP3_ENST00000450428.1_Silent_p.D29D	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	325					cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				CCTTCACGGACGAGGACACCA	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20381	0.0		0.0	False		,,,				2504	0.0				Melanoma(160;2366 2595 4474 8099)												0			16											91.0	73.0	79.0					16																	532596		2202	4300	6502	472597	SO:0001819	synonymous_variant	9727			AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.975C>T	16.37:g.532596C>T		Somatic		Capture	Illumina HiSeq	Phase_I	472597	B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	CCDS32351.1																																																																																				RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700	
CLEC16A	23274	hgsc.bcm.edu	37	16	11097081	11097081	+	Missense_Mutation	SNP	G	G	A	rs201942249		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:11097081G>A	ENST00000409790.1	+	11	1452	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K	CLEC16A_ENST00000409552.3_Missense_Mutation_p.E406K	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A											breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						AGGGCCCACCGAGGATGCCCA	0.532																																																	0			16											76.0	84.0	82.0					16																	11097081		1997	4141	6138	11004582	SO:0001583	missense	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1222G>A	16.37:g.11097081G>A	ENSP00000387122:p.Glu408Lys	Somatic		Capture	Illumina HiSeq	Phase_I	11004582		Missense_Mutation	SNP	ENST00000409790.1	37	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.964781	0.74131	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.48201	0.82	5.62	5.62	0.85841	.	0.222611	0.40554	N	0.001077	T	0.51483	0.1677	L	0.54323	1.7	0.80722	D	1	D;D	0.63880	0.983;0.993	B;P	0.50082	0.356;0.63	T	0.42865	-0.9426	10	0.09338	T	0.73	-23.0153	18.6399	0.91392	0.0:0.0:1.0:0.0	.	408;406	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	K	408;408;406	ENSP00000387122:E408K	ENSP00000386495:E406K	E	+	1	0	CLEC16A	11004582	1.000000	0.71417	0.956000	0.39512	0.477000	0.33069	8.441000	0.90313	2.662000	0.90505	0.655000	0.94253	GAG		CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
UMOD	7369	hgsc.bcm.edu	37	16	20357567	20357567	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:20357567C>T	ENST00000570689.1	-	5	1209	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	UMOD_ENST00000396134.2_Missense_Mutation_p.D388N|UMOD_ENST00000396138.4_Missense_Mutation_p.D404N|UMOD_ENST00000424589.1_Missense_Mutation_p.D388N|UMOD_ENST00000302509.4_Missense_Mutation_p.D355N|UMOD_ENST00000396142.2_Missense_Mutation_p.D355N			P07911	UROM_HUMAN	uromodulin	355	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AAGACCTTGTCGAAGCCCAGA	0.582																																																	0			16											85.0	78.0	81.0					16																	20357567		2203	4300	6503	20265068	SO:0001583	missense	7369			M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1063G>A	16.37:g.20357567C>T	ENSP00000460548:p.Asp355Asn	Somatic		Capture	Illumina HiSeq	Phase_I	20265068	B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	c	13.04	2.119808	0.37436	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.82433	-1.61;-1.61;-1.61;-1.61	4.67	1.02	0.19986	Zona pellucida sperm-binding protein (3);	0.472674	0.17937	N	0.156969	T	0.62816	0.2459	N	0.12746	0.255	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.19946	0.006;0.027	T	0.47459	-0.9116	10	0.27082	T	0.32	-10.3565	3.8168	0.08818	0.0:0.3225:0.3999:0.2775	.	388;355	E9PEA4;P07911	.;UROM_HUMAN	N	355;388;388;355;333;355	ENSP00000379438:D388N;ENSP00000416346:D388N;ENSP00000306279:D355N;ENSP00000379446:D355N	ENSP00000306279:D355N	D	-	1	0	UMOD	20265068	0.001000	0.12720	0.967000	0.41034	0.886000	0.51366	-0.016000	0.12613	0.240000	0.21263	0.306000	0.20318	GAC		UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1		
SH2B1	25970	hgsc.bcm.edu	37	16	28856082	28856082	+	5'Flank	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:28856082G>A	ENST00000322610.8	+	0	0				MIR4721_ENST00000577590.1_RNA|TUFM_ENST00000313511.3_Silent_p.T207T			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1						blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AGCCAAACTCGGTGAGCAGCT	0.592																																																	0			16											110.0	103.0	106.0					16																	28856082		2197	4300	6497	28763583	SO:0001631	upstream_gene_variant	7284			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2			16.37:g.28856082G>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	28763583	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	CCDS53996.1																																																																																				SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1	NM_015503	
CYLD	1540	hgsc.bcm.edu	37	16	50820850	50820850	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:50820850A>G	ENST00000427738.3	+	12	2239	c.2034A>G	c.(2032-2034)gaA>gaG	p.E678E	CYLD_ENST00000569418.1_Silent_p.E675E|CYLD_ENST00000564326.1_Silent_p.E675E|CYLD_ENST00000540145.1_Silent_p.E678E|RP11-327F22.4_ENST00000564510.1_RNA|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Silent_p.E493E|CYLD_ENST00000398568.2_Silent_p.E675E|CYLD_ENST00000311559.9_Silent_p.E678E|CYLD_ENST00000566206.1_Silent_p.E675E			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	678	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				TTACCTCTGAAGAAAAAGGTG	0.353			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0			16											99.0	103.0	102.0					16																	50820850		1840	4094	5934	49378351	SO:0001819	synonymous_variant	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2034A>G	16.37:g.50820850A>G		Somatic		Capture	Illumina HiSeq	Phase_I	49378351	O94934|Q7L3N6|Q96EH0|Q9NZX9	Silent	SNP	ENST00000427738.3	37	CCDS45482.1																																																																																				CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
CHD9	80205	hgsc.bcm.edu	37	16	53272302	53272302	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:53272302A>G	ENST00000398510.3	+	11	2768	c.2681A>G	c.(2680-2682)cAa>cGa	p.Q894R	CHD9_ENST00000447540.1_Missense_Mutation_p.Q894R|CHD9_ENST00000564845.1_Missense_Mutation_p.Q894R|CHD9_ENST00000566029.1_Missense_Mutation_p.Q894R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	894	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAAACTATTCAATCAATTACA	0.348																																																	0			16											97.0	91.0	93.0					16																	53272302		1829	4084	5913	51829803	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.2681A>G	16.37:g.53272302A>G	ENSP00000381522:p.Gln894Arg	Somatic		Capture	Illumina HiSeq	Phase_I	51829803	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	A	24.1	4.491233	0.84962	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	D;D	0.94280	-3.39;-3.39	5.02	5.02	0.67125	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.53938	D	0.000047	D	0.98406	0.9470	H	0.99815	4.805	0.80722	D	1	D;D;D;D	0.61080	0.972;0.989;0.985;0.981	D;D;D;D	0.74023	0.911;0.948;0.982;0.969	D	0.99331	1.0909	10	0.87932	D	0	-10.2449	14.7523	0.69536	1.0:0.0:0.0:0.0	.	420;894;894;894	B4DR07;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	R	894;894;420	ENSP00000396345:Q894R;ENSP00000381522:Q894R	ENSP00000219084:Q420R	Q	+	2	0	CHD9	51829803	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.281000	0.95811	1.892000	0.54788	0.377000	0.23210	CAA		CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
IRX6	79190	hgsc.bcm.edu	37	16	55363057	55363057	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:55363057C>T	ENST00000290552.7	+	5	2499	c.1167C>T	c.(1165-1167)gcC>gcT	p.A389A	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	389					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CTGCCTCTGCCCGGCGACTCT	0.627																																																	0			16											61.0	59.0	60.0					16																	55363057		2198	4300	6498	53920558	SO:0001819	synonymous_variant	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.1167C>T	16.37:g.55363057C>T		Somatic		Capture	Illumina HiSeq	Phase_I	53920558	B2RN06|Q7Z2K0	Silent	SNP	ENST00000290552.7	37	CCDS32449.1																																																																																				IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335	
CDH1	999	hgsc.bcm.edu	37	16	68853211	68853211	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:68853211T>C	ENST00000261769.5	+	11	1785	c.1594T>C	c.(1594-1596)Tgg>Cgg	p.W532R	CDH1_ENST00000422392.2_Missense_Mutation_p.W471R|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	532	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CACTGCCAACTGGCTGGAGAT	0.507			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	1	Unknown(1)	breast(1)	16											106.0	89.0	95.0					16																	68853211		2198	4300	6498	67410712	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1594T>C	16.37:g.68853211T>C	ENSP00000261769:p.Trp532Arg	Somatic		Capture	Illumina HiSeq	Phase_I	67410712	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.939263	0.73557	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.51574	0.7;0.7	5.55	5.55	0.83447	Cadherin (4);Cadherin-like (1);	0.000000	0.47852	D	0.000202	T	0.68842	0.3045	M	0.77616	2.38	0.80722	D	1	D;D	0.69078	0.988;0.997	D;D	0.69142	0.954;0.962	T	0.73649	-0.3916	10	0.87932	D	0	.	15.3739	0.74590	0.0:0.0:0.0:1.0	.	471;532	Q9UII8;P12830	.;CADH1_HUMAN	R	532;550;532;471	ENSP00000261769:W532R;ENSP00000414946:W471R	ENSP00000261769:W532R	W	+	1	0	CDH1	67410712	1.000000	0.71417	0.999000	0.59377	0.624000	0.37722	7.088000	0.76901	2.110000	0.64415	0.454000	0.30748	TGG		CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
HAS3	3038	hgsc.bcm.edu	37	16	69143929	69143929	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:69143929A>G	ENST00000306560.1	+	2	787	c.631A>G	c.(631-633)Atc>Gtc	p.I211V	HAS3_ENST00000569188.1_Missense_Mutation_p.I211V|HAS3_ENST00000219322.3_Missense_Mutation_p.I211V	NM_005329.2	NP_005320.2	O00219	HYAS3_HUMAN	hyaluronan synthase 3	211					carbohydrate metabolic process (GO:0005975)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of transcription, DNA-templated (GO:0045893)|small molecule metabolic process (GO:0044281)	hyaluranon cable (GO:0036117)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGTGGACTACATCCAGGTAAG	0.602																																																	0			16											57.0	49.0	52.0					16																	69143929		2198	4300	6498	67701430	SO:0001583	missense	3038			BC021853	CCDS10870.1, CCDS10871.1	16q22.1	2013-02-22			ENSG00000103044	ENSG00000103044	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4820	protein-coding gene	gene with protein product		602428				9169154, 9083017	Standard	NM_005329		Approved		uc010cfh.3	O00219	OTTHUMG00000137562	ENST00000306560.1:c.631A>G	16.37:g.69143929A>G	ENSP00000304440:p.Ile211Val	Somatic		Capture	Illumina HiSeq	Phase_I	67701430	A8K5T5|Q8WTZ0|Q9NYP0	Missense_Mutation	SNP	ENST00000306560.1	37	CCDS10871.1	.	.	.	.	.	.	.	.	.	.	A	0.539	-0.854656	0.02630	.	.	ENSG00000103044	ENST00000219322;ENST00000306560	D;T	0.84223	-1.82;0.29	5.34	5.34	0.76211	.	0.250700	0.43919	D	0.000503	T	0.61627	0.2362	N	0.02775	-0.495	0.37798	D	0.927617	B;B	0.17038	0.001;0.02	B;B	0.12156	0.007;0.003	T	0.60772	-0.7197	10	0.06236	T	0.91	-18.5114	7.725	0.28755	0.8408:0.0:0.1592:0.0	.	211;211	O00219;O00219-2	HAS3_HUMAN;.	V	211	ENSP00000219322:I211V;ENSP00000304440:I211V	ENSP00000219322:I211V	I	+	1	0	HAS3	67701430	0.955000	0.32602	1.000000	0.80357	0.855000	0.48748	0.715000	0.25822	2.027000	0.59764	0.459000	0.35465	ATC		HAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268898.2	NM_138612	
TAT	6898	hgsc.bcm.edu	37	16	71610250	71610250	+	Silent	SNP	G	G	A	rs370850249		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:71610250G>A	ENST00000355962.4	-	2	202	c.69C>T	c.(67-69)aaC>aaT	p.N23N	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	23					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	TCCCACCAACGTTGACATGCA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19449	0.0		0.001	False		,,,				2504	0.0				Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												0			16						G		1,4395	2.1+/-5.4	0,1,2197	116.0	114.0	115.0		69	2.0	0.1	16		115	0,8600		0,0,4300	no	coding-synonymous	TAT	NM_000353.2		0,1,6497	AA,AG,GG		0.0,0.0227,0.0077		23/455	71610250	1,12995	2198	4300	6498	70167751	SO:0001819	synonymous_variant	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.69C>T	16.37:g.71610250G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70167751	B2R8I1|D3DWS2	Silent	SNP	ENST00000355962.4	37	CCDS10903.1																																																																																				TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268989.1		
AP1G1	164	hgsc.bcm.edu	37	16	71808377	71808377	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:71808377A>G	ENST00000299980.4	-	3	761	c.320T>C	c.(319-321)aTc>aCc	p.I107T	AP1G1_ENST00000433195.2_Missense_Mutation_p.I130T|AP1G1_ENST00000423132.2_Missense_Mutation_p.I107T|AP1G1_ENST00000393512.3_Missense_Mutation_p.I107T|AP1G1_ENST00000569748.1_Missense_Mutation_p.I107T	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	107					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTACTTCTTGATACAGTTGGT	0.373																																																	0			16											146.0	143.0	144.0					16																	71808377		2198	4300	6498	70365878	SO:0001583	missense	164			Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.320T>C	16.37:g.71808377A>G	ENSP00000299980:p.Ile107Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70365878	O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.409325	0.62399	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000425422;ENST00000450149	T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42	4.72	4.72	0.59763	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.049906	0.85682	D	0.000000	T	0.36220	0.0959	M	0.81614	2.55	0.80722	D	1	P;B;B;B	0.46064	0.872;0.01;0.067;0.001	P;B;B;B	0.52309	0.695;0.189;0.22;0.011	T	0.31503	-0.9941	10	0.66056	D	0.02	-3.099	14.6404	0.68720	1.0:0.0:0.0:0.0	.	189;107;130;107	B4DS96;O43747;B3KXW5;O43747-2	.;AP1G1_HUMAN;.;.	T	107;107;107;130;189;107	ENSP00000299980:I107T;ENSP00000377148:I107T;ENSP00000409153:I107T;ENSP00000403259:I130T;ENSP00000405836:I107T	ENSP00000299980:I107T	I	-	2	0	AP1G1	70365878	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.947000	0.93000	1.915000	0.55452	0.467000	0.42956	ATC		AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
GLG1	2734	hgsc.bcm.edu	37	16	74499629	74499629	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:74499629A>G	ENST00000422840.2	-	19	2611	c.2612T>C	c.(2611-2613)aTg>aCg	p.M871T	Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000447066.2_Missense_Mutation_p.M860T|GLG1_ENST00000205061.5_Missense_Mutation_p.M871T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	871					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TGGGTCCATCATCTCTGTCTC	0.463																																																	0			16											211.0	201.0	204.0					16																	74499629		2198	4300	6498	73057130	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2612T>C	16.37:g.74499629A>G	ENSP00000405984:p.Met871Thr	Somatic		Capture	Illumina HiSeq	Phase_I	73057130	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	A	16.59	3.164798	0.57476	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.71676	0.3368	L	0.60455	1.87	0.80722	D	1	D;B;D;B	0.56521	0.976;0.078;0.971;0.21	P;B;P;B	0.57283	0.817;0.115;0.631;0.09	T	0.68815	-0.5309	9	0.29301	T	0.29	-16.7589	16.4101	0.83708	1.0:0.0:0.0:0.0	.	1;871;871;860	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	T	871;860;871	.	ENSP00000205061:M871T	M	-	2	0	GLG1	73057130	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	8.996000	0.93539	2.280000	0.76307	0.460000	0.39030	ATG		GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
PKD1L2	114780	hgsc.bcm.edu	37	16	81134863	81134863	+	RNA	SNP	A	A	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:81134863A>T	ENST00000534142.1	-	0	1632				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAGCAGCAAATCTACGATCT	0.512																																																	0			16											50.0	55.0	53.0					16																	81134863		2023	4183	6206	79692364			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81134863A>T		Somatic		Capture	Illumina HiSeq	Phase_I	79692364	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37																																																																																					PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
ZNF469	84627	hgsc.bcm.edu	37	16	88500123	88500123	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:88500123G>A	ENST00000437464.1	+	2	6161	c.6161G>A	c.(6160-6162)cGg>cAg	p.R2054Q	ZNF469_ENST00000565624.1_Missense_Mutation_p.R2082Q	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	2054					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						TCTGAGGGCCGGACTCCAGAG	0.706																																																	0			16											7.0	10.0	9.0					16																	88500123		683	1571	2254	87027624	SO:0001583	missense	84627			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.6161G>A	16.37:g.88500123G>A	ENSP00000402343:p.Arg2054Gln	Somatic		Capture	Illumina HiSeq	Phase_I	87027624		Missense_Mutation	SNP	ENST00000437464.1	37	CCDS45544.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628873	0.28978	.	.	ENSG00000225614	ENST00000437464	T	0.39997	1.05	4.8	-2.41	0.06562	.	.	.	.	.	T	0.19127	0.0459	N	0.08118	0	0.09310	N	1	B	0.22211	0.066	B	0.09377	0.004	T	0.21861	-1.0233	9	0.22706	T	0.39	.	9.6406	0.39837	0.5583:0.0:0.4417:0.0	.	2054	Q96JG9	ZN469_HUMAN	Q	2054	ENSP00000402343:R2054Q	ENSP00000402343:R2054Q	R	+	2	0	ZNF469	87027624	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.577000	0.02127	-0.331000	0.08501	-0.345000	0.07892	CGG		ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NG_012236	
ZFPM1	161882	hgsc.bcm.edu	37	16	88594495	88594495	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr16:88594495C>T	ENST00000319555.3	+	6	883	c.561C>T	c.(559-561)agC>agT	p.S187S	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	187					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GACTCCTGAGCGTGCTCCTCA	0.672																																					Pancreas(49;850 1106 29641 32847 38344)												0			16											15.0	19.0	18.0					16																	88594495		2154	4268	6422	87121996	SO:0001819	synonymous_variant	161882			AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.561C>T	16.37:g.88594495C>T		Somatic		Capture	Illumina HiSeq	Phase_I	87121996		Silent	SNP	ENST00000319555.3	37	CCDS32502.1																																																																																				ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2		
ANKRD12	23253	hgsc.bcm.edu	37	18	9254261	9254261	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr18:9254261C>T	ENST00000262126.4	+	9	1236	c.996C>T	c.(994-996)gaC>gaT	p.D332D	ANKRD12_ENST00000383440.2_Silent_p.D309D|ANKRD12_ENST00000400020.3_Silent_p.D309D	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	332						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AAAATATTGACTCTGAAACAG	0.368																																																	0			18											84.0	88.0	87.0					18																	9254261		2203	4300	6503	9244261	SO:0001819	synonymous_variant	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.996C>T	18.37:g.9254261C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9244261	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	ENST00000262126.4	37	CCDS11843.1																																																																																				ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208	
ZNF396	252884	hgsc.bcm.edu	37	18	32954210	32954210	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr18:32954210G>T	ENST00000589332.1	-	2	178	c.47C>A	c.(46-48)tCa>tAa	p.S16*	ZNF396_ENST00000306346.1_Nonsense_Mutation_p.S16*|ZNF396_ENST00000586687.1_Nonsense_Mutation_p.S16*			Q96N95	ZN396_HUMAN	zinc finger protein 396	16					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	7						ACACTCCTCTGAAGTTTGTGT	0.463																																																	0			18											71.0	65.0	67.0					18																	32954210		2203	4300	6503	31208208	SO:0001587	stop_gained	252884			AK055775	CCDS11913.1	18p12	2013-01-09			ENSG00000186496	ENSG00000186496		"""-"", ""Zinc fingers, C2H2-type"""	18824	protein-coding gene	gene with protein product		609600					Standard	NM_145756		Approved	ZSCAN14, FLJ31213	uc010xcf.1	Q96N95	OTTHUMG00000132562	ENST00000589332.1:c.47C>A	18.37:g.32954210G>T	ENSP00000466500:p.Ser16*	Somatic		Capture	Illumina HiSeq	Phase_I	31208208	A1L3V0|Q8NF98|Q8TD80	Nonsense_Mutation	SNP	ENST00000589332.1	37		.	.	.	.	.	.	.	.	.	.	G	16.36	3.101667	0.56183	.	.	ENSG00000186496	ENST00000306346;ENST00000399057	.	.	.	3.91	2.09	0.27110	.	1.377880	0.05520	U	0.561865	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	.	5.7107	0.17933	0.2509:0.0:0.7491:0.0	.	.	.	.	X	16	.	ENSP00000302310:S16X	S	-	2	0	ZNF396	31208208	0.012000	0.17670	0.001000	0.08648	0.047000	0.14425	1.890000	0.39728	0.602000	0.29896	0.555000	0.69702	TCA		ZNF396-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255766.1	NM_145756	
SMAD4	4089	hgsc.bcm.edu	37	18	48573537	48573537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr18:48573537G>T	ENST00000342988.3	+	2	659	c.121G>T	c.(121-123)Gaa>Taa	p.E41*	SMAD4_ENST00000452201.2_Nonsense_Mutation_p.E41*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.E41*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.E41*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	41	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)|p.E41fs*8(1)|p.A36_K45delAKRAIESLVK(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AAGAGCAATTGAAAGTTTGGT	0.363																																																	43	Whole gene deletion(36)|Unknown(5)|Complex - frameshift(1)|Deletion - In frame(1)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|oesophagus(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|NS(1)	18											128.0	126.0	127.0					18																	48573537		2203	4300	6503	46827535	SO:0001587	stop_gained	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.121G>T	18.37:g.48573537G>T	ENSP00000341551:p.Glu41*	Somatic		Capture	Illumina HiSeq	Phase_I	46827535	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	9.853670	0.99280	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9469	0.92625	0.0:0.0:1.0:0.0	.	.	.	.	X	41	.	ENSP00000341551:E41X	E	+	1	0	SMAD4	46827535	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	GAA		SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
DOK6	220164	hgsc.bcm.edu	37	18	67425052	67425052	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr18:67425052G>A	ENST00000382713.5	+	7	989	c.799G>A	c.(799-801)Gcg>Acg	p.A267T		NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	267								p.A267T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				TCCTCGCAGCGCGTACTGGCA	0.413																																																	1	Substitution - Missense(1)	prostate(1)	18											132.0	111.0	118.0					18																	67425052		2203	4300	6503	65576032	SO:0001583	missense	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.799G>A	18.37:g.67425052G>A	ENSP00000372160:p.Ala267Thr	Somatic		Capture	Illumina HiSeq	Phase_I	65576032	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Missense_Mutation	SNP	ENST00000382713.5	37	CCDS32841.1	.	.	.	.	.	.	.	.	.	.	G	32	5.127972	0.94473	.	.	ENSG00000206052	ENST00000382713	T	0.81415	-1.49	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	L	0.38175	1.15	0.58432	D	0.999999	D	0.62365	0.991	P	0.56398	0.797	T	0.76424	-0.2964	10	0.15499	T	0.54	-19.0242	18.4033	0.90525	0.0:0.0:1.0:0.0	.	267	Q6PKX4	DOK6_HUMAN	T	267	ENSP00000372160:A267T	ENSP00000372160:A267T	A	+	1	0	DOK6	65576032	1.000000	0.71417	0.394000	0.26270	0.974000	0.67602	7.786000	0.85741	2.681000	0.91329	0.561000	0.74099	GCG		DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442969.1	NM_152721	
BRPF1	7862	hgsc.bcm.edu	37	3	9781308	9781308	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:9781308T>A	ENST00000457855.1	+	2	1236	c.1225T>A	c.(1225-1227)Ttc>Atc	p.F409I	BRPF1_ENST00000383829.2_Missense_Mutation_p.F409I|BRPF1_ENST00000302054.3_Missense_Mutation_p.F409I|BRPF1_ENST00000433861.2_Missense_Mutation_p.F409I|BRPF1_ENST00000424362.1_Missense_Mutation_p.F409I			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	409					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TTACACAGCTTTCCATGTGAC	0.587																																																	0			3											56.0	56.0	56.0					3																	9781308		2203	4300	6503	9756308	SO:0001583	missense	23774			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.1225T>A	3.37:g.9781308T>A	ENSP00000410210:p.Phe409Ile	Somatic		Capture	Illumina HiSeq	Phase_I	9756308	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	37	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	T	16.61	3.172287	0.57584	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97	6.17	6.17	0.99709	Zinc finger, PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.61073	0.2318	H	0.95437	3.67	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.998;1.0	T	0.73547	-0.3948	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	409;409;409;409	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	I	409	ENSP00000402485:F409I;ENSP00000398863:F409I;ENSP00000373340:F409I;ENSP00000306297:F409I;ENSP00000410210:F409I	ENSP00000306297:F409I	F	+	1	0	BRPF1	9756308	1.000000	0.71417	1.000000	0.80357	0.035000	0.12851	7.691000	0.84191	2.371000	0.80710	0.533000	0.62120	TTC		BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
RAB5A	5868	hgsc.bcm.edu	37	3	20017197	20017197	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:20017197T>A	ENST00000273047.4	+	3	804	c.268T>A	c.(268-270)Tac>Aac	p.Y90N	RAB5A_ENST00000422242.1_Missense_Mutation_p.Y76N	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family	90					blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						ACCAATGTACTACAGAGGAGC	0.388																																																	0			3											120.0	110.0	113.0					3																	20017197		2203	4300	6503	19992201	SO:0001583	missense	5868				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889	ENST00000273047.4:c.268T>A	3.37:g.20017197T>A	ENSP00000273047:p.Tyr90Asn	Somatic		Capture	Illumina HiSeq	Phase_I	19992201	B4DJA5|Q6FI44	Missense_Mutation	SNP	ENST00000273047.4	37	CCDS2633.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698519	0.88830	.	.	ENSG00000144566	ENST00000273047;ENST00000422242	T;T	0.80653	-1.4;-1.4	5.09	5.09	0.68999	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.93517	0.7931	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95830	0.8857	9	.	.	.	-4.8489	15.1572	0.72752	0.0:0.0:0.0:1.0	.	76;90	B4DJA5;P20339	.;RAB5A_HUMAN	N	90;76	ENSP00000273047:Y90N;ENSP00000411941:Y76N	.	Y	+	1	0	RAB5A	19992201	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.960000	0.87893	2.055000	0.61198	0.460000	0.39030	TAC		RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252137.2	NM_004162	
GOLGA4	2803	hgsc.bcm.edu	37	3	37337662	37337662	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:37337662G>A	ENST00000361924.2	+	7	1140	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	GOLGA4_ENST00000435830.2_3'UTR|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E278K|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	256	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACCACAGGCTGAAGTCTTCAC	0.408																																																	0			3											86.0	89.0	88.0					3																	37337662		2203	4300	6503	37312666	SO:0001583	missense	2803			U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.766G>A	3.37:g.37337662G>A	ENSP00000354486:p.Glu256Lys	Somatic		Capture	Illumina HiSeq	Phase_I	37312666	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	ENST00000361924.2	37	CCDS2666.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.410164	0.42715	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000450863;ENST00000437131	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	4.47	3.59	0.41128	.	0.000000	0.36101	N	0.002786	T	0.26666	0.0652	M	0.71581	2.175	0.21386	N	0.999709	B;B;B	0.14438	0.01;0.01;0.003	B;B;B	0.09377	0.004;0.004;0.003	T	0.34477	-0.9827	10	0.06891	T	0.86	.	8.9349	0.35693	0.0894:0.1945:0.7162:0.0	.	256;278;256	Q13439-4;F8W8Q7;Q13439	.;.;GOGA4_HUMAN	K	256;278;261;127	ENSP00000354486:E256K;ENSP00000349305:E278K;ENSP00000387633:E261K;ENSP00000405842:E127K	ENSP00000349305:E278K	E	+	1	0	GOLGA4	37312666	0.988000	0.35896	0.476000	0.27291	0.021000	0.10359	1.998000	0.40796	1.250000	0.43966	0.411000	0.27672	GAA		GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	NM_002078	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266106	41266106	+	Missense_Mutation	SNP	A	A	G	rs121913416		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:41266106A>G	ENST00000349496.5	+	3	383	c.103A>G	c.(103-105)Atc>Gtc	p.I35V	CTNNB1_ENST00000453024.1_Missense_Mutation_p.I28V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.I35V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.I35V|CTNNB1_ENST00000396185.3_Missense_Mutation_p.I35V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	35			I -> S (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_K170del(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.I35_T41del(1)|p.I35_G38del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GGACTCTGGAATCCATTCTGG	0.493		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	134	Deletion - In frame(108)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(100)|large_intestine(19)|stomach(7)|small_intestine(2)|skin(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|pancreas(1)	3											94.0	79.0	84.0					3																	41266106		2203	4300	6503	41241110	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.103A>G	3.37:g.41266106A>G	ENSP00000344456:p.Ile35Val	Somatic		Capture	Illumina HiSeq	Phase_I	41241110	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.335333	0.81801	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76;0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64853	0.2636	M	0.79614	2.46	0.80722	D	1	D	0.64830	0.994	P	0.55749	0.783	T	0.70392	-0.4884	10	0.87932	D	0	-3.5499	16.0676	0.80897	1.0:0.0:0.0:0.0	.	35	P35222	CTNB1_HUMAN	V	28;35;35;35;35;28;35;35;35	ENSP00000400508:I28V;ENSP00000385604:I35V;ENSP00000412219:I35V;ENSP00000379486:I35V;ENSP00000344456:I35V;ENSP00000411226:I28V;ENSP00000379488:I35V;ENSP00000409302:I35V;ENSP00000401599:I35V	ENSP00000344456:I35V	I	+	1	0	CTNNB1	41241110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.201000	0.70794	0.533000	0.62120	ATC		CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
MITF	4286	hgsc.bcm.edu	37	3	70014107	70014107	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:70014107A>G	ENST00000448226.2	+	10	1416	c.1289A>G	c.(1288-1290)aAc>aGc	p.N430S	MITF_ENST00000328528.6_Missense_Mutation_p.N423S|MITF_ENST00000314557.6_Missense_Mutation_p.N317S|MITF_ENST00000314589.5_Missense_Mutation_p.N408S|MITF_ENST00000352241.4_Missense_Mutation_p.N424S|MITF_ENST00000531774.1_Missense_Mutation_p.N261S|MITF_ENST00000394355.2_Missense_Mutation_p.N399S|MITF_ENST00000394351.3_Missense_Mutation_p.N323S|MITF_ENST00000472437.1_Missense_Mutation_p.N372S			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	430	DNA binding regulation.				bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)	p.N323T(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		GTTCTTGAGAACTGCAGCCAA	0.502			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""																														Melanoma(29;269 969 31479 41502 42961)			Dom	yes		3	3p14.1	4286	microphthalmia-associated transcription factor	yes	E	1	Substitution - Missense(1)	ovary(1)	3											156.0	131.0	140.0					3																	70014107		2203	4300	6503	70096797	SO:0001583	missense	4286				CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1289A>G	3.37:g.70014107A>G	ENSP00000391803:p.Asn430Ser	Somatic		Capture	Illumina HiSeq	Phase_I	70096797	B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37		.	.	.	.	.	.	.	.	.	.	A	13.03	2.116533	0.37339	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.62639	0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01;0.01	6.17	6.17	0.99709	.	0.079220	0.85682	D	0.000000	T	0.46386	0.1390	N	0.22421	0.69	0.43141	D	0.994899	B;B;B;B;B;B;B	0.13594	0.003;0.003;0.003;0.007;0.007;0.005;0.008	B;B;B;B;B;B;B	0.17433	0.017;0.006;0.006;0.018;0.018;0.018;0.012	T	0.41698	-0.9494	9	.	.	.	.	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	372;323;317;399;408;423;424	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	S	424;430;372;423;408;399;317;323;261	ENSP00000295600:N424S;ENSP00000391803:N430S;ENSP00000418845:N372S;ENSP00000327867:N423S;ENSP00000324443:N408S;ENSP00000377884:N399S;ENSP00000324246:N317S;ENSP00000377880:N323S;ENSP00000435909:N261S	.	N	+	2	0	MITF	70096797	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.452000	0.66638	2.371000	0.80710	0.533000	0.62120	AAC		MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159	
SLC9C1	285335	hgsc.bcm.edu	37	3	111888083	111888083	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:111888083A>G	ENST00000305815.5	-	24	3264	c.3012T>C	c.(3010-3012)gcT>gcC	p.A1004A	SLC9C1_ENST00000487372.1_Silent_p.A956A	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1004					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TGGCTGTAATAGCGAGTCCAA	0.343																																																	0			3											108.0	104.0	105.0					3																	111888083		2203	4300	6503	113370773	SO:0001819	synonymous_variant	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.3012T>C	3.37:g.111888083A>G		Somatic		Capture	Illumina HiSeq	Phase_I	113370773	Q6ZRP4|Q7RTP2	Silent	SNP	ENST00000305815.5	37	CCDS33817.1																																																																																				SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
SLC9C1	285335	hgsc.bcm.edu	37	3	111899499	111899499	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:111899499T>C	ENST00000305815.5	-	22	2912	c.2660A>G	c.(2659-2661)aAa>aGa	p.K887R	SLC9C1_ENST00000487372.1_Missense_Mutation_p.K839R	NM_183061.1	NP_898884.1	Q4G0N8	SL9C1_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	887					cell differentiation (GO:0030154)|ion transmembrane transport (GO:0034220)|multicellular organismal development (GO:0007275)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										TGTTACAACTTTGGCTTTTTC	0.303																																																	0			3											116.0	116.0	116.0					3																	111899499		2203	4300	6503	113382189	SO:0001583	missense	285335			AK128084	CCDS33817.1	3q13	2013-05-22	2012-03-22	2012-03-22	ENSG00000172139	ENSG00000172139		"""Solute carriers"""	31401	protein-coding gene	gene with protein product	"""sperm-NHE"""	612738	"""solute carrier family 9, isoform 10"", ""solute carrier family 9, member 10"""	SLC9A10		12783626	Standard	NM_183061		Approved	NHE	uc003dyu.3	Q4G0N8	OTTHUMG00000159245	ENST00000305815.5:c.2660A>G	3.37:g.111899499T>C	ENSP00000306627:p.Lys887Arg	Somatic		Capture	Illumina HiSeq	Phase_I	113382189	Q6ZRP4|Q7RTP2	Missense_Mutation	SNP	ENST00000305815.5	37	CCDS33817.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.101638	0.37048	.	.	ENSG00000172139	ENST00000305815;ENST00000487372	T;T	0.44482	0.92;0.92	5.39	-5.74	0.02391	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (1);	0.476070	0.19458	N	0.113774	T	0.15782	0.0380	N	0.10874	0.06	0.09310	N	1	B;B	0.19073	0.033;0.012	B;B	0.23275	0.045;0.007	T	0.04723	-1.0931	10	0.41790	T	0.15	-28.3939	2.6079	0.04883	0.1179:0.3513:0.1202:0.4106	.	839;887	Q4G0N8-2;Q4G0N8	.;S9A10_HUMAN	R	887;839	ENSP00000306627:K887R;ENSP00000420688:K839R	ENSP00000306627:K887R	K	-	2	0	SLC9A10	113382189	0.000000	0.05858	0.000000	0.03702	0.378000	0.30076	-1.750000	0.01822	-1.384000	0.02103	0.327000	0.21459	AAA		SLC9C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354066.1	NM_183061	
KALRN	8997	hgsc.bcm.edu	37	3	124103827	124103827	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:124103827G>A	ENST00000240874.3	+	11	2057	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	KALRN_ENST00000460856.1_Missense_Mutation_p.E634K|KALRN_ENST00000360013.3_Missense_Mutation_p.E634K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	634					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGCAGGGTGGAGCAGCGGAA	0.582																																																	0			3											97.0	82.0	87.0					3																	124103827		2203	4300	6503	125586517	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.1900G>A	3.37:g.124103827G>A	ENSP00000240874:p.Glu634Lys	Somatic		Capture	Illumina HiSeq	Phase_I	125586517	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	37	CCDS3027.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.615241|5.615241	0.96649|0.96649	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013;ENST00000439170|ENST00000354186	T;T;T;T|.	0.37584|.	1.19;1.19;1.19;1.19|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.065216|.	0.64402|.	D|.	0.000013|.	T|.	0.76842|.	0.4044|.	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	D;D;D|.	0.69078|.	0.997;0.997;0.996|.	D;D;D|.	0.79108|.	0.981;0.992;0.968|.	T|.	0.76024|.	-0.3110|.	10|.	0.37606|.	T|.	0.19|.	.|.	18.9768|18.9768	0.92740|0.92740	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	634;634;634|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	K|X	634;634;634;110|611	ENSP00000418611:E634K;ENSP00000240874:E634K;ENSP00000353109:E634K;ENSP00000402950:E110K|.	ENSP00000240874:E634K|.	E|W	+|+	1|3	0|0	KALRN|KALRN	125586517|125586517	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.597000|9.597000	0.98273|0.98273	2.700000|2.700000	0.92200|0.92200	0.563000|0.563000	0.77884|0.77884	GAG|TGG		KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
CPNE4	131034	hgsc.bcm.edu	37	3	131261586	131261586	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:131261586C>T	ENST00000512055.1	-	19	3480	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	CPNE4_ENST00000502818.1_Missense_Mutation_p.D470N|CPNE4_ENST00000511604.1_Missense_Mutation_p.D452N|CPNE4_ENST00000429747.1_Missense_Mutation_p.D452N|CPNE4_ENST00000512332.1_Missense_Mutation_p.D470N			Q96A23	CPNE4_HUMAN	copine IV	452	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCCCGGGTGTCGGCCATGTCT	0.567																																																	0			3											112.0	99.0	103.0					3																	131261586		2203	4300	6503	132744276	SO:0001583	missense	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.1354G>A	3.37:g.131261586C>T	ENSP00000421705:p.Asp452Asn	Somatic		Capture	Illumina HiSeq	Phase_I	132744276	D3DNC5|Q8TEX1	Missense_Mutation	SNP	ENST00000512055.1	37	CCDS3072.1	.	.	.	.	.	.	.	.	.	.	C	34	5.296062	0.95574	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.25250	1.81;1.81;1.81;1.81;1.81	5.3	5.3	0.74995	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.47710	0.1460	L	0.49256	1.55	0.80722	D	1	D;P	0.89917	1.0;0.763	D;B	0.80764	0.994;0.274	T	0.40515	-0.9559	10	0.56958	D	0.05	-26.566	19.0375	0.92985	0.0:1.0:0.0:0.0	.	470;452	Q96A23-2;Q96A23	.;CPNE4_HUMAN	N	452;452;470;452;470	ENSP00000421705:D452N;ENSP00000411904:D452N;ENSP00000424853:D470N;ENSP00000423811:D452N;ENSP00000421646:D470N	ENSP00000411904:D452N	D	-	1	0	CPNE4	132744276	1.000000	0.71417	0.932000	0.37286	0.993000	0.82548	7.815000	0.86186	2.503000	0.84419	0.650000	0.86243	GAC		CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808	
RAB6B	51560	hgsc.bcm.edu	37	3	133583452	133583452	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:133583452G>A	ENST00000285208.4	-	2	454	c.105C>T	c.(103-105)taC>taT	p.Y35Y	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.Y35Y|RAB6B_ENST00000486858.1_Silent_p.Y22Y	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	35					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						CGAAGCTGTCGTACATGAACC	0.512																																																	0			3											247.0	216.0	226.0					3																	133583452		2203	4300	6503	135066142	SO:0001819	synonymous_variant	51560			AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.105C>T	3.37:g.133583452G>A		Somatic		Capture	Illumina HiSeq	Phase_I	135066142	B2R5Z9|B7Z337|D3DND3|Q92929	Silent	SNP	ENST00000285208.4	37	CCDS3082.1																																																																																				RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1		
PRR23A	729627	hgsc.bcm.edu	37	3	138724643	138724643	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:138724643G>A	ENST00000383163.2	-	1	467	c.468C>T	c.(466-468)taC>taT	p.Y156Y	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	156								p.Y156Y(1)		endometrium(3)|kidney(1)|lung(7)	11						CGTCCTCCTCGTAGGCCTCTT	0.632																																																	1	Substitution - coding silent(1)	endometrium(1)	3											29.0	31.0	30.0					3																	138724643		692	1591	2283	140207333	SO:0001819	synonymous_variant	0				CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.468C>T	3.37:g.138724643G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140207333		Silent	SNP	ENST00000383163.2	37	CCDS46923.1																																																																																				PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361503.1	NM_001134659	
XRN1	54464	hgsc.bcm.edu	37	3	142140334	142140334	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:142140334A>G	ENST00000264951.4	-	9	1136	c.1019T>C	c.(1018-1020)cTt>cCt	p.L340P	XRN1_ENST00000392981.2_Missense_Mutation_p.L340P|RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000463916.1_Missense_Mutation_p.L340P|XRN1_ENST00000544157.1_Missense_Mutation_p.L130P	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	340					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L340H(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTTTCACAAGGTATTTCTC	0.328																																																	1	Substitution - Missense(1)	ovary(1)	3											60.0	59.0	59.0					3																	142140334		2202	4299	6501	143623024	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1019T>C	3.37:g.142140334A>G	ENSP00000264951:p.Leu340Pro	Somatic		Capture	Illumina HiSeq	Phase_I	143623024	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	ENST00000264951.4	37	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.051422	0.75960	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	T;T	0.50277	0.75;0.76	5.27	5.27	0.74061	.	0.174438	0.51477	D	0.000089	T	0.75961	0.3921	M	0.93150	3.385	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.992;1.0;1.0;0.999	D;D;D;D;D	0.76071	0.986;0.952;0.95;0.987;0.971	T	0.82212	-0.0569	10	0.54805	T	0.06	-17.5749	15.1465	0.72657	1.0:0.0:0.0:0.0	.	130;340;201;340;340	B4E2K3;Q8IZH2-3;B3KW17;Q8IZH2-2;Q8IZH2	.;.;.;.;XRN1_HUMAN	P	340;340;340;130	ENSP00000264951:L340P;ENSP00000376707:L340P	ENSP00000264951:L340P	L	-	2	0	XRN1	143623024	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.730000	0.91510	2.118000	0.64928	0.377000	0.23210	CTT		XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001	
TNIK	23043	hgsc.bcm.edu	37	3	170819363	170819363	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:170819363T>C	ENST00000436636.2	-	22	2810	c.2466A>G	c.(2464-2466)ccA>ccG	p.P822P	TNIK_ENST00000284483.8_Silent_p.P814P|TNIK_ENST00000357327.5_Silent_p.P793P|TNIK_ENST00000538048.1_Silent_p.P774P|TNIK_ENST00000341852.6_Silent_p.P738P|TNIK_ENST00000460047.1_Silent_p.P759P|TNIK_ENST00000488470.1_Silent_p.P767P|TNIK_ENST00000470834.1_Silent_p.P785P|TNIK_ENST00000475336.1_Silent_p.P730P|TNIK_ENST00000369326.5_Silent_p.P800P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	822	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CCTTCTTCATTGGGCGGTTTG	0.463																																																	0			3											252.0	238.0	243.0					3																	170819363		2051	4201	6252	172302057	SO:0001819	synonymous_variant	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2466A>G	3.37:g.170819363T>C		Somatic		Capture	Illumina HiSeq	Phase_I	172302057	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Silent	SNP	ENST00000436636.2	37	CCDS46956.1																																																																																				TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796	
KCNMB2	10242	hgsc.bcm.edu	37	3	178560616	178560616	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:178560616T>C	ENST00000432997.1	+	5	951	c.599T>C	c.(598-600)cTc>cCc	p.L200P	RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.L200P|KCNMB2_ENST00000358316.3_Missense_Mutation_p.L200P|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.L200P	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	214					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	TTCCATTCACTCTTCTGGCCA	0.468																																																	0			3											90.0	86.0	87.0					3																	178560616		2203	4300	6503	180043310	SO:0001583	missense	27094			AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.599T>C	3.37:g.178560616T>C	ENSP00000407592:p.Leu200Pro	Somatic		Capture	Illumina HiSeq	Phase_I	180043310	B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.755417	0.69648	.	.	ENSG00000197584	ENST00000420517;ENST00000452583;ENST00000432997;ENST00000358316;ENST00000457763	T;T;T;T	0.17370	2.28;2.28;2.28;2.28	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	M	0.70595	2.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32719	-0.9896	10	0.87932	D	0	-15.6833	16.8222	0.85835	0.0:0.0:0.0:1.0	.	200	Q9Y691	KCMB2_HUMAN	P	200;200;200;200;181	ENSP00000408252:L200P;ENSP00000397483:L200P;ENSP00000407592:L200P;ENSP00000351068:L200P	ENSP00000351068:L200P	L	+	2	0	KCNMB2	180043310	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.452000	0.80683	2.371000	0.80710	0.533000	0.62120	CTC		KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361	
PIK3CA	5290	hgsc.bcm.edu	37	3	178916664	178916664	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:178916664C>T	ENST00000263967.3	+	2	208	c.51C>T	c.(49-51)ccC>ccT	p.P17P		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	17	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.I13_R19del(1)|p.L15_V22>PM(1)|p.P17del(1)|p.E9_R19del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ACTTGATGCCCCCAAGAATCC	0.383		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	4	Deletion - In frame(3)|Complex - deletion inframe(1)	endometrium(2)|central_nervous_system(2)	3											56.0	56.0	56.0					3																	178916664		1855	4093	5948	180399358	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.51C>T	3.37:g.178916664C>T		Somatic		Capture	Illumina HiSeq	Phase_I	180399358	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178917526	178917526	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:178917526C>T	ENST00000263967.3	+	3	558	c.401C>T	c.(400-402)cCa>cTa	p.P134L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	134					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTTAAAGATCCAGAAGTACAG	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											139.0	132.0	134.0					3																	178917526		1832	4086	5918	180400220	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.401C>T	3.37:g.178917526C>T	ENSP00000263967:p.Pro134Leu	Somatic		Capture	Illumina HiSeq	Phase_I	180400220	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.727978	0.69074	.	.	ENSG00000121879	ENST00000263967	T	0.46063	0.88	5.95	5.95	0.96441	.	0.105355	0.64402	N	0.000003	T	0.48370	0.1496	M	0.69823	2.125	0.80722	D	1	B	0.14805	0.011	B	0.09377	0.004	T	0.38243	-0.9670	10	0.48119	T	0.1	-27.65	20.3748	0.98911	0.0:1.0:0.0:0.0	.	134	P42336	PK3CA_HUMAN	L	134	ENSP00000263967:P134L	ENSP00000263967:P134L	P	+	2	0	PIK3CA	180400220	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.487000	0.81328	2.817000	0.96982	0.563000	0.77884	CCA		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178928091	178928091	+	Missense_Mutation	SNP	A	A	G	rs397517200		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:178928091A>G	ENST00000263967.3	+	8	1526	c.1369A>G	c.(1369-1371)Aac>Gac	p.N457D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	457	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H450fs*9(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AGATTTGCTGAACCCTATTGG	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Complex - frameshift(1)	endometrium(1)	3											137.0	129.0	132.0					3																	178928091		1827	4088	5915	180410785	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1369A>G	3.37:g.178928091A>G	ENSP00000263967:p.Asn457Asp	Somatic		Capture	Illumina HiSeq	Phase_I	180410785	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.029747	0.93518	.	.	ENSG00000121879	ENST00000263967	T	0.77098	-1.07	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.148010	0.64402	D	0.000008	D	0.87845	0.6280	M	0.86651	2.83	0.80722	D	1	D	0.58620	0.983	P	0.59703	0.862	D	0.88643	0.3177	10	0.44086	T	0.13	-26.4061	15.8545	0.78965	1.0:0.0:0.0:0.0	.	457	P42336	PK3CA_HUMAN	D	457	ENSP00000263967:N457D	ENSP00000263967:N457D	N	+	1	0	PIK3CA	180410785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.935000	0.92923	2.160000	0.67779	0.533000	0.62120	AAC		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178951901	178951901	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:178951901A>G	ENST00000263967.3	+	21	3113	c.2956A>G	c.(2956-2958)Aag>Gag	p.K986E	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	986	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GATGTGTTACAAGGCTTATCT	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											120.0	109.0	112.0					3																	178951901		1863	4096	5959	180434595	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.2956A>G	3.37:g.178951901A>G	ENSP00000263967:p.Lys986Glu	Somatic		Capture	Illumina HiSeq	Phase_I	180434595	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484726	0.44147	.	.	ENSG00000121879	ENST00000263967	T	0.74315	-0.83	6.07	6.07	0.98685	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	T	0.74772	0.3760	N	0.21142	0.635	0.80722	D	1	D	0.64830	0.994	P	0.61397	0.888	T	0.70454	-0.4867	10	0.15066	T	0.55	-18.4827	16.635	0.85050	1.0:0.0:0.0:0.0	.	986	P42336	PK3CA_HUMAN	E	986	ENSP00000263967:K986E	ENSP00000263967:K986E	K	+	1	0	PIK3CA	180434595	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	2.330000	0.79161	0.477000	0.44152	AAG		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178952066	178952066	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:178952066A>G	ENST00000263967.3	+	21	3278	c.3121A>G	c.(3121-3123)Aaa>Gaa	p.K1041E	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1041	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GTATTTCATGAAACAAATGAA	0.383		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											95.0	85.0	89.0					3																	178952066		1899	4127	6026	180434760	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3121A>G	3.37:g.178952066A>G	ENSP00000263967:p.Lys1041Glu	Somatic		Capture	Illumina HiSeq	Phase_I	180434760	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	4.902	0.167716	0.09339	.	.	ENSG00000121879	ENST00000263967	T	0.81078	-1.45	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.051080	0.85682	D	0.000000	T	0.68449	0.3002	L	0.28608	0.87	0.80722	D	1	P	0.36483	0.555	B	0.28916	0.096	T	0.67496	-0.5656	10	0.15066	T	0.55	-22.0735	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1041	P42336	PK3CA_HUMAN	E	1041	ENSP00000263967:K1041E	ENSP00000263967:K1041E	K	+	1	0	PIK3CA	180434760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	AAA		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
TCTEX1D2	255758	hgsc.bcm.edu	37	3	196018209	196018209	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:196018209A>G	ENST00000325318.5	-	5	553	c.418T>C	c.(418-420)Ttc>Ctc	p.F140L	TCTEX1D2_ENST00000491186.1_5'UTR|RP11-447L10.1_ENST00000431391.1_Intron	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	140										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		CAGTAGTAGAAACAGCCAAAT	0.323																																																	0			3											72.0	76.0	74.0					3																	196018209		2203	4300	6503	197502606	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.418T>C	3.37:g.196018209A>G	ENSP00000324323:p.Phe140Leu	Somatic		Capture	Illumina HiSeq	Phase_I	197502606	A6NCN5	Missense_Mutation	SNP	ENST00000325318.5	37	CCDS33929.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.839406	0.51057	.	.	ENSG00000213123	ENST00000325318	T	0.27720	1.65	5.28	5.28	0.74379	.	0.105285	0.40469	U	0.001095	T	0.37073	0.0990	M	0.74546	2.27	0.46437	D	0.999049	B	0.17852	0.024	B	0.26614	0.071	T	0.31447	-0.9943	10	0.72032	D	0.01	-6.8512	11.5378	0.50648	1.0:0.0:0.0:0.0	.	140	Q8WW35	TC1D2_HUMAN	L	140	ENSP00000324323:F140L	ENSP00000324323:F140L	F	-	1	0	TCTEX1D2	197502606	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	4.181000	0.58303	2.225000	0.72522	0.533000	0.62120	TTC		TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341166.1	NM_152773	
NOP2	4839	hgsc.bcm.edu	37	12	6673077	6673077	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:6673077C>G	ENST00000322166.5	-	6	631	c.510G>C	c.(508-510)aaG>aaC	p.K170N	NOP2_ENST00000542015.1_Intron|NOP2_ENST00000545200.1_Missense_Mutation_p.K166N|NOP2_ENST00000399466.2_Missense_Mutation_p.K166N|NOP2_ENST00000541778.1_Missense_Mutation_p.K166N|NOP2_ENST00000537442.1_Missense_Mutation_p.K170N|NOP2_ENST00000382421.3_Missense_Mutation_p.K203N	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	170					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTTCCCGGGCCTTCTGCTTCC	0.537											OREG0021630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			12											45.0	46.0	45.0					12																	6673077		1877	4115	5992	6543338	SO:0001583	missense	4839				CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.510G>C	12.37:g.6673077C>G	ENSP00000313272:p.Lys170Asn	Somatic	635	Capture	Illumina HiSeq	Phase_I	6543338	A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.335201	0.81801	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867;ENST00000536124	T;T;T;T;T;T;T;T;T	0.61980	2.37;2.04;2.45;2.39;2.37;2.39;0.82;0.63;0.06	5.83	4.93	0.64822	.	0.294751	0.38381	N	0.001714	T	0.73992	0.3658	M	0.71581	2.175	0.80722	D	1	P;D	0.67145	0.938;0.996	B;P	0.60541	0.368;0.876	T	0.76138	-0.3069	10	0.54805	T	0.06	-32.4439	12.415	0.55488	0.0:0.9205:0.0:0.0795	.	203;166	Q3KQS4;P46087-2	.;.	N	170;203;166;166;170;166;46;166;170	ENSP00000444437:K170N;ENSP00000371858:K203N;ENSP00000439422:K166N;ENSP00000382392:K166N;ENSP00000313272:K170N;ENSP00000443150:K166N;ENSP00000440754:K46N;ENSP00000443035:K166N;ENSP00000442895:K170N	ENSP00000313272:K170N	K	-	3	2	NOP2	6543338	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.923000	0.28757	1.444000	0.47605	0.557000	0.71058	AAG		NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
KLHL42	57542	hgsc.bcm.edu	37	12	27944691	27944691	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:27944691G>A	ENST00000381271.2	+	2	1234	c.923G>A	c.(922-924)gGg>gAg	p.G308E		NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	308					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.G308E(1)									GCCATCGGAGGGCAGGCCGTT	0.483																																																	1	Substitution - Missense(1)	ovary(1)	12											216.0	206.0	210.0					12																	27944691		2203	4300	6503	27835958	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.923G>A	12.37:g.27944691G>A	ENSP00000370671:p.Gly308Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27835958	Q2VPK1|Q8N334	Missense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888575	0.91814	.	.	ENSG00000087448	ENST00000381271	D	0.99494	-6.01	4.86	4.86	0.63082	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99799	0.9914	H	0.99535	4.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96586	0.9434	10	0.87932	D	0	.	17.1803	0.86853	0.0:0.0:1.0:0.0	.	308	Q9P2K6	KLDC5_HUMAN	E	308	ENSP00000370671:G308E	ENSP00000370671:G308E	G	+	2	0	KLHDC5	27835958	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	9.069000	0.93967	2.505000	0.84491	0.650000	0.86243	GGG		KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
CCDC91	55297	hgsc.bcm.edu	37	12	28605481	28605481	+	Missense_Mutation	SNP	C	C	T	rs544457452		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:28605481C>T	ENST00000545336.1	+	14	1414	c.995C>T	c.(994-996)gCg>gTg	p.A332V	CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.A296V|CCDC91_ENST00000539107.1_Missense_Mutation_p.A296V|CCDC91_ENST00000306172.5_Missense_Mutation_p.A302V|CCDC91_ENST00000381259.1_Missense_Mutation_p.A332V			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	332	Homodimerization.				protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TTAGAAAAAGCGCATGCTGAA	0.303													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13736	0.0		0.0	False		,,,				2504	0.0																0			12											63.0	73.0	70.0					12																	28605481		2201	4290	6491	28496748	SO:0001583	missense	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.995C>T	12.37:g.28605481C>T	ENSP00000438040:p.Ala332Val	Somatic		Capture	Illumina HiSeq	Phase_I	28496748	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Missense_Mutation	SNP	ENST00000545336.1	37	CCDS8716.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.253|3.253	-0.152939|-0.152939	0.06585|0.06585	.|.	.|.	ENSG00000123106|ENSG00000123106	ENST00000536154;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000545737;ENST00000381259;ENST00000381256;ENST00000306172;ENST00000535212|ENST00000542801	T;T;T;T;T;T;T;T;T|.	0.43688|.	1.93;0.94;1.79;1.62;1.79;1.62;0.94;1.62;1.25|.	5.43|5.43	-5.23|-5.23	0.02798|0.02798	.|.	1.291780|.	0.05034|.	N|.	0.475075|.	T|T	0.14227|0.14227	0.0344|0.0344	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.01281|.	0.0;0.0;0.0|.	T|T	0.31251|0.31251	-0.9950|-0.9950	10|5	0.02654|.	T|.	1|.	1.0994|1.0994	15.1195|15.1195	0.72432|0.72432	0.0:0.1658:0.0:0.8342|0.0:0.1658:0.0:0.8342	.|.	296;332;302|.	Q7Z6B0-3;Q7Z6B0;Q7Z6B0-2|.	.;CCD91_HUMAN;.|.	V|C	72;296;332;332;332;332;296;302;31|3	ENSP00000444440:A72V;ENSP00000440513:A296V;ENSP00000445660:A332V;ENSP00000438040:A332V;ENSP00000442544:A332V;ENSP00000370658:A332V;ENSP00000370655:A296V;ENSP00000305075:A302V;ENSP00000445999:A31V|.	ENSP00000305075:A302V|.	A|R	+|+	2|1	0|0	CCDC91|CCDC91	28496748|28496748	0.006000|0.006000	0.16342|0.16342	0.002000|0.002000	0.10522|0.10522	0.969000|0.969000	0.65631|0.65631	-0.162000|-0.162000	0.10012|0.10012	-0.915000|-0.915000	0.03823|0.03823	0.585000|0.585000	0.79938|0.79938	GCG|CGC		CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402447.1	NM_018318	
OVCH1	341350	hgsc.bcm.edu	37	12	29628042	29628042	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:29628042T>C	ENST00000318184.5	-	14	1551	c.1552A>G	c.(1552-1554)Aaa>Gaa	p.K518E	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	518	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AAACGATTTTTACCATCACTT	0.333																																																	0			12											55.0	51.0	52.0					12																	29628042		1842	4087	5929	29519309	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1552A>G	12.37:g.29628042T>C	ENSP00000326708:p.Lys518Glu	Somatic		Capture	Illumina HiSeq	Phase_I	29519309		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	T	0.016	-1.515609	0.00975	.	.	ENSG00000187950	ENST00000318184	T	0.58652	0.32	2.45	0.533	0.17121	CUB (5);	.	.	.	.	T	0.20210	0.0486	N	0.01096	-1.015	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.30387	-0.9980	9	0.02654	T	1	.	6.936	0.24466	0.0:0.7456:0.0:0.2544	.	518	Q7RTY7	OVCH1_HUMAN	E	518	ENSP00000326708:K518E	ENSP00000326708:K518E	K	-	1	0	OVCH1	29519309	0.803000	0.28956	0.114000	0.21550	0.059000	0.15707	1.221000	0.32503	0.118000	0.18165	0.260000	0.18958	AAA		OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
OVCH1	341350	hgsc.bcm.edu	37	12	29629219	29629219	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:29629219T>C	ENST00000318184.5	-	13	1390	c.1391A>G	c.(1390-1392)gAc>gGc	p.D464G	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	464	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GACAGCAAAGTCCTCAAATGT	0.383																																																	0			12											158.0	148.0	151.0					12																	29629219		1855	4107	5962	29520486	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1391A>G	12.37:g.29629219T>C	ENSP00000326708:p.Asp464Gly	Somatic		Capture	Illumina HiSeq	Phase_I	29520486		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	T	13.99	2.401884	0.42613	.	.	ENSG00000187950	ENST00000318184	T	0.57907	0.37	2.83	0.34	0.15985	CUB (5);	.	.	.	.	T	0.45955	0.1368	M	0.71206	2.165	0.20764	N	0.99985	B	0.18610	0.029	B	0.21708	0.036	T	0.38156	-0.9674	9	0.23891	T	0.37	.	5.1171	0.14840	0.0:0.1066:0.1822:0.7112	.	464	Q7RTY7	OVCH1_HUMAN	G	464	ENSP00000326708:D464G	ENSP00000326708:D464G	D	-	2	0	OVCH1	29520486	1.000000	0.71417	0.066000	0.19879	0.257000	0.26127	1.132000	0.31418	0.055000	0.16094	-0.323000	0.08544	GAC		OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378	
ERBB3	2065	hgsc.bcm.edu	37	12	56481924	56481924	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:56481924A>G	ENST00000267101.3	+	7	1292	c.852A>G	c.(850-852)ggA>ggG	p.G284G	ERBB3_ENST00000415288.2_Silent_p.G225G|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	284					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AGTATGGAGGAGTTTGTGTAG	0.468																																																	0			12											66.0	62.0	64.0					12																	56481924		2203	4300	6503	54768191	SO:0001819	synonymous_variant	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.852A>G	12.37:g.56481924A>G		Somatic		Capture	Illumina HiSeq	Phase_I	54768191	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Silent	SNP	ENST00000267101.3	37	CCDS31833.1																																																																																				ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3		
GRIP1	23426	hgsc.bcm.edu	37	12	66849241	66849241	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:66849241T>C	ENST00000398016.3	-	10	1214	c.1146A>G	c.(1144-1146)ccA>ccG	p.P382P	GRIP1_ENST00000286445.7_Silent_p.P434P|GRIP1_ENST00000359742.4_Silent_p.P434P	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.P382P(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGTTCCACGTGGGCTGGTGG	0.488																																																	1	Substitution - coding silent(1)	ovary(1)	12											159.0	156.0	157.0					12																	66849241		1949	4155	6104	65135508	SO:0001819	synonymous_variant	85329			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1146A>G	12.37:g.66849241T>C		Somatic		Capture	Illumina HiSeq	Phase_I	65135508	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.958|9.958	1.222027|1.222027	0.22457|0.22457	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000543172	.|.	.|.	.|.	5.51|5.51	-1.91|-1.91	0.07641|0.07641	.|.	.|.	.|.	.|.	.|.	T|T	0.43277|0.43277	0.1240|0.1240	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.31752|0.31752	-0.9932|-0.9932	4|4	.|.	.|.	.|.	-11.5531|-11.5531	4.2799|4.2799	0.10827|0.10827	0.3275:0.1886:0.0:0.4839|0.3275:0.1886:0.0:0.4839	.|.	.|.	.|.	.|.	R|A	249|202	.|.	.|.	H|T	-|-	2|1	0|0	GRIP1|GRIP1	65135508|65135508	0.010000|0.010000	0.17322|0.17322	0.997000|0.997000	0.53966|0.53966	0.980000|0.980000	0.70556|0.70556	-1.237000|-1.237000	0.02922|0.02922	-0.137000|-0.137000	0.11455|0.11455	-0.441000|-0.441000	0.05720|0.05720	CAC|ACG		GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
NAV3	89795	hgsc.bcm.edu	37	12	78522503	78522503	+	Missense_Mutation	SNP	G	G	A	rs377221679		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:78522503G>A	ENST00000397909.2	+	18	4471	c.4298G>A	c.(4297-4299)cGg>cAg	p.R1433Q	NAV3_ENST00000266692.7_Missense_Mutation_p.R1256Q|NAV3_ENST00000536525.2_Missense_Mutation_p.R1433Q|NAV3_ENST00000228327.6_Missense_Mutation_p.R1433Q			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1433	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCATCATCTCGGCAGGCCAAC	0.512										HNSCC(70;0.22)																																							0			12											132.0	129.0	130.0					12																	78522503		1982	4174	6156	77046634	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4298G>A	12.37:g.78522503G>A	ENSP00000381007:p.Arg1433Gln	Somatic		Capture	Illumina HiSeq	Phase_I	77046634	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	G	10.69	1.422437	0.25639	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	T;T;T;T;T	0.27256	1.88;1.89;1.88;1.68;2.66	5.81	5.81	0.92471	.	0.000000	0.36778	U	0.002418	T	0.30198	0.0757	N	0.10945	0.07	0.80722	D	1	P;P;D;P	0.89917	0.614;0.626;1.0;0.897	B;B;D;B	0.83275	0.037;0.05;0.996;0.127	T	0.03086	-1.1074	10	0.02654	T	1	-14.3859	20.0755	0.97742	0.0:0.0:1.0:0.0	.	1433;1256;1433;1433	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	Q	1433;1433;1433;1256;54;62	ENSP00000446132:R1433Q;ENSP00000381007:R1433Q;ENSP00000228327:R1433Q;ENSP00000266692:R1256Q;ENSP00000448303:R62Q	ENSP00000228327:R1433Q	R	+	2	0	NAV3	77046634	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.787000	0.85759	2.749000	0.94314	0.460000	0.39030	CGG		NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
PPP1R12A	4659	hgsc.bcm.edu	37	12	80190724	80190724	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:80190724G>T	ENST00000450142.2	-	17	2565	c.2299C>A	c.(2299-2301)Cag>Aag	p.Q767K	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.Q680K|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.Q767K|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.Q711K|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.Q767K	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	767	Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CTATAACGCTGGTAAGTCTGT	0.328																																																	0			12											145.0	137.0	140.0					12																	80190724		1872	4108	5980	78714855	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2299C>A	12.37:g.80190724G>T	ENSP00000389168:p.Gln767Lys	Somatic		Capture	Illumina HiSeq	Phase_I	78714855	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	CCDS44947.1	.	.	.	.	.	.	.	.	.	.	G	8.279	0.815032	0.16607	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107	T;T;T;T;T	0.34667	1.39;1.39;1.4;1.41;1.35	5.79	3.94	0.45596	.	0.430705	0.27677	N	0.018303	T	0.24928	0.0605	L	0.34521	1.04	0.30250	N	0.79414	B;B;B	0.18310	0.007;0.027;0.004	B;B;B	0.19391	0.009;0.025;0.004	T	0.22277	-1.0221	10	0.06757	T	0.87	.	12.8595	0.57906	0.0:0.1247:0.7454:0.1299	.	767;711;767	O14974-2;O14974-3;O14974	.;.;MYPT1_HUMAN	K	767;767;767;711;708;767;767;680;711	ENSP00000261207:Q767K;ENSP00000389168:Q767K;ENSP00000416769:Q767K;ENSP00000449514:Q680K;ENSP00000446855:Q711K	ENSP00000261207:Q767K	Q	-	1	0	PPP1R12A	78714855	1.000000	0.71417	0.907000	0.35723	0.980000	0.70556	4.840000	0.62817	0.751000	0.32900	0.655000	0.94253	CAG		PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2	NM_002480	
DCN	1634	hgsc.bcm.edu	37	12	91552212	91552212	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:91552212T>C	ENST00000052754.5	-	4	900	c.399A>G	c.(397-399)cgA>cgG	p.R133R	DCN_ENST00000303320.3_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000393155.1_Silent_p.R133R|DCN_ENST00000552962.1_Silent_p.R133R|DCN_ENST00000547568.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000228329.5_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	133					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ACAGATAAAGTCGTTCCAACT	0.408																																																	0			12											134.0	129.0	131.0					12																	91552212		2203	4300	6503	90076343	SO:0001819	synonymous_variant	1634			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.399A>G	12.37:g.91552212T>C		Somatic		Capture	Illumina HiSeq	Phase_I	90076343	Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Silent	SNP	ENST00000052754.5	37	CCDS9039.1																																																																																				DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507	
SCYL2	55681	hgsc.bcm.edu	37	12	100720404	100720404	+	Missense_Mutation	SNP	G	G	A	rs199548769		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:100720404G>A	ENST00000360820.2	+	12	1951	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	505					endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.R509H(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TAATAGGTTCGTGTAAATTCA	0.279																																																	1	Substitution - Missense(1)	ovary(1)	12											95.0	91.0	93.0					12																	100720404		2203	4299	6502	99244535	SO:0001583	missense	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.1514G>A	12.37:g.100720404G>A	ENSP00000354061:p.Arg505His	Somatic		Capture	Illumina HiSeq	Phase_I	99244535	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Missense_Mutation	SNP	ENST00000360820.2	37	CCDS9076.1	.	.	.	.	.	.	.	.	.	.	G	34	5.323184	0.95708	.	.	ENSG00000136021	ENST00000549687;ENST00000360820	T;T	0.55052	0.54;0.54	5.38	5.38	0.77491	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.80420	-0.1390	10	0.87932	D	0	.	19.497	0.95077	0.0:0.0:1.0:0.0	.	505	Q6P3W7	SCYL2_HUMAN	H	505	ENSP00000448366:R505H;ENSP00000354061:R505H	ENSP00000354061:R505H	R	+	2	0	SCYL2	99244535	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.672000	0.98629	2.677000	0.91161	0.563000	0.77884	CGT		SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2	NM_017988	
ALDH2	217	hgsc.bcm.edu	37	12	112228251	112228251	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:112228251T>C	ENST00000261733.2	+	6	627	c.566T>C	c.(565-567)cTc>cCc	p.L189P	RP11-162P23.2_ENST00000546840.2_Missense_Mutation_p.S186P|ALDH2_ENST00000416293.3_Missense_Mutation_p.L142P	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	189					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	AATTTCCCGCTCCTGATGCAA	0.562			T	HMGA2	leiomyoma																																			Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0			12											128.0	108.0	115.0					12																	112228251		2203	4300	6503	110712634	SO:0001583	missense	217			M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.566T>C	12.37:g.112228251T>C	ENSP00000261733:p.Leu189Pro	Somatic		Capture	Illumina HiSeq	Phase_I	110712634	B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.075643	0.76415	.	.	ENSG00000257767;ENSG00000111275;ENSG00000111275;ENSG00000111275	ENST00000546840;ENST00000416293;ENST00000261733;ENST00000552234	T;T	0.80738	-1.41;-1.41	5.58	5.58	0.84498	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.062079	0.64402	D	0.000003	D	0.92251	0.7542	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.981;1.0	D	0.94179	0.7430	10	0.87932	D	0	.	15.7419	0.77905	0.0:0.0:0.0:1.0	.	142;189	E7EUE5;P05091	.;ALDH2_HUMAN	P	170;142;189;49	ENSP00000403349:L142P;ENSP00000261733:L189P	ENSP00000261733:L189P	L	+	2	0	ALDH2;RP11-162P23.2	110712634	1.000000	0.71417	0.372000	0.25991	0.780000	0.44128	7.698000	0.84413	2.113000	0.64589	0.460000	0.39030	CTC		ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690	
PTPN11	5781	hgsc.bcm.edu	37	12	112915744	112915744	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:112915744T>C	ENST00000351677.2	+	9	1215	c.1017T>C	c.(1015-1017)aaT>aaC	p.N339N	PTPN11_ENST00000392597.1_Silent_p.N339N	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	339	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACACGGTGAATGACTTTTGGC	0.418			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0			12											70.0	64.0	66.0					12																	112915744		2203	4300	6503	111400127	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1017T>C	12.37:g.112915744T>C		Somatic		Capture	Illumina HiSeq	Phase_I	111400127	A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1																																																																																				PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
OAS1	4938	hgsc.bcm.edu	37	12	113355473	113355473	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:113355473G>A	ENST00000202917.5	+	5	1269	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	OAS1_ENST00000551241.1_Missense_Mutation_p.D336N|OAS1_ENST00000452357.2_Missense_Mutation_p.D336N|OAS1_ENST00000445409.2_Missense_Mutation_p.D336N|RP1-71H24.1_ENST00000552784.1_RNA	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	336					cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TAAGAATTGGGATGGGTCCCC	0.557																																																	0			12											137.0	143.0	141.0					12																	113355473		2203	4300	6503	111839856	SO:0001583	missense	4938			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1006G>A	12.37:g.113355473G>A	ENSP00000202917:p.Asp336Asn	Somatic		Capture	Illumina HiSeq	Phase_I	111839856	A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	ENST00000202917.5	37	CCDS41838.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.688129	0.29962	.	.	ENSG00000089127	ENST00000202917;ENST00000445409;ENST00000452357;ENST00000551241;ENST00000377508;ENST00000553152	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.05	1.01	0.19927	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	3.364860	0.00649	N	0.000548	T	0.43188	0.1236	L	0.33710	1.025	0.09310	N	0.999999	B;P;B;B	0.34977	0.031;0.478;0.423;0.204	B;B;B;B	0.41813	0.032;0.363;0.367;0.248	T	0.30416	-0.9979	10	0.45353	T	0.12	-19.6819	4.0083	0.09611	0.2711:0.0:0.5652:0.1637	.	336;336;336;336	F8VXY3;P00973;P00973-3;P00973-2	.;OAS1_HUMAN;.;.	N	336;336;336;336;336;82	ENSP00000202917:D336N;ENSP00000388001:D336N;ENSP00000415721:D336N;ENSP00000448790:D336N;ENSP00000449053:D82N	ENSP00000202917:D336N	D	+	1	0	OAS1	111839856	0.000000	0.05858	0.005000	0.12908	0.075000	0.17131	0.076000	0.14712	0.328000	0.23435	0.655000	0.94253	GAT		OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405896.2		
RASAL1	8437	hgsc.bcm.edu	37	12	113568721	113568721	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:113568721G>T	ENST00000261729.5	-	3	406	c.91C>A	c.(91-93)Cta>Ata	p.L31I	RASAL1_ENST00000546530.1_Missense_Mutation_p.L31I|RASAL1_ENST00000548055.1_Missense_Mutation_p.L31I|RASAL1_ENST00000446861.3_Missense_Mutation_p.L31I|RASAL1_ENST00000418411.2_5'UTR			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	31	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.L31L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						ACTTTCACTAGGCAGTAGGGG	0.617																																																	1	Substitution - coding silent(1)	ovary(1)	12											62.0	52.0	55.0					12																	113568721		2203	4300	6503	112053104	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.91C>A	12.37:g.113568721G>T	ENSP00000261729:p.Leu31Ile	Somatic		Capture	Illumina HiSeq	Phase_I	112053104	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	3.148	-0.174845	0.06421	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36	4.83	1.49	0.22878	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.202424	0.39909	N	0.001231	T	0.28101	0.0693	N	0.01209	-0.955	0.24909	N	0.992059	B;B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.001;0.0;0.0;0.0	B;B;B;B;B;B;B	0.11329	0.006;0.006;0.004;0.006;0.001;0.006;0.004	T	0.35943	-0.9768	10	0.02654	T	1	.	7.1759	0.25744	0.1111:0.0:0.4633:0.4256	.	31;31;31;43;31;31;31	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	I	31	ENSP00000450244:L31I;ENSP00000261729:L31I;ENSP00000395920:L31I;ENSP00000448510:L31I	ENSP00000261729:L31I	L	-	1	2	RASAL1	112053104	1.000000	0.71417	0.713000	0.30519	0.762000	0.43233	1.256000	0.32921	0.128000	0.18479	0.491000	0.48974	CTA		RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	
PRKAB1	5564	hgsc.bcm.edu	37	12	120111862	120111862	+	Splice_Site	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:120111862G>T	ENST00000229328.5	+	3	909	c.417G>T	c.(415-417)gaG>gaT	p.E139D	PRKAB1_ENST00000541640.1_Splice_Site_p.E139D|PRKAB1_ENST00000540121.1_5'UTR	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	139	Glycogen-binding domain. {ECO:0000250}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein kinase activity (GO:0004672)			endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331)	ACCCTTCCGAGGTACTCTTCC	0.532																																																	0			12											134.0	113.0	120.0					12																	120111862		2203	4300	6503	118596245	SO:0001630	splice_region_variant	5564			BC001823	CCDS9191.1	12q24.1-q24.3	2008-05-14			ENSG00000111725	ENSG00000111725			9378	protein-coding gene	gene with protein product	"""AMPK beta 1"""	602740				8557660	Standard	NM_006253		Approved		uc001txg.3	Q9Y478	OTTHUMG00000168954	ENST00000229328.5:c.417+1G>T	12.37:g.120111862G>T		Somatic		Capture	Illumina HiSeq	Phase_I	118596245	Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8	Missense_Mutation	SNP	ENST00000229328.5	37	CCDS9191.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776655	0.70107	.	.	ENSG00000111725	ENST00000229328;ENST00000541640;ENST00000539596	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.49253	0.1546	L	0.41710	1.295	0.80722	D	1	P	0.36789	0.57	B	0.32533	0.147	T	0.41270	-0.9518	9	0.14252	T	0.57	-15.339	20.6634	0.99662	0.0:0.0:1.0:0.0	.	139	Q9Y478	AAKB1_HUMAN	D	139;139;102	.	ENSP00000229328:E139D	E	+	3	2	PRKAB1	118596245	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.229000	0.95273	2.894000	0.99253	0.655000	0.94253	GAG		PRKAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401731.2	NM_006253	Missense_Mutation
ATP6V0A2	23545	hgsc.bcm.edu	37	12	124233316	124233316	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:124233316G>A	ENST00000330342.3	+	15	2167	c.1919G>A	c.(1918-1920)gGc>gAc	p.G640D		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	640					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AAAACAAGTGGCCTTTACACA	0.423																																																	0			12											84.0	86.0	85.0					12																	124233316		2203	4300	6503	122799269	SO:0001583	missense	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.1919G>A	12.37:g.124233316G>A	ENSP00000332247:p.Gly640Asp	Somatic		Capture	Illumina HiSeq	Phase_I	122799269	A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	CCDS9254.1	.	.	.	.	.	.	.	.	.	.	G	8.507	0.865619	0.17250	.	.	ENSG00000185344	ENST00000330342	D	0.85629	-2.01	5.47	4.57	0.56435	.	0.165435	0.53938	D	0.000060	T	0.71753	0.3377	N	0.17723	0.515	0.25919	N	0.983132	B	0.10296	0.003	B	0.15052	0.012	T	0.55970	-0.8056	10	0.30854	T	0.27	-19.8506	7.294	0.26383	0.1333:0.2729:0.5938:0.0	.	640	Q9Y487	VPP2_HUMAN	D	640	ENSP00000332247:G640D	ENSP00000332247:G640D	G	+	2	0	ATP6V0A2	122799269	0.000000	0.05858	0.357000	0.25798	0.348000	0.29142	0.198000	0.17217	2.724000	0.93272	0.561000	0.74099	GGC		ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463	
TMEM132D	121256	hgsc.bcm.edu	37	12	129569055	129569055	+	Missense_Mutation	SNP	C	C	T	rs542855447		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:129569055C>T	ENST00000422113.2	-	6	1962	c.1636G>A	c.(1636-1638)Gtc>Atc	p.V546I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.V84I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	546					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGCTGGAGACGATGGGCACT	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20268	0.0		0.0	False		,,,				2504	0.001																0			12											66.0	49.0	55.0					12																	129569055		2203	4300	6503	128135008	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1636G>A	12.37:g.129569055C>T	ENSP00000408581:p.Val546Ile	Somatic		Capture	Illumina HiSeq	Phase_I	128135008	Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	0.820	-0.748914	0.03065	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.13657	2.57;2.57	4.79	0.685	0.18009	.	1.123440	0.06606	N	0.754684	T	0.09512	0.0234	L	0.36672	1.1	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.09377	0.001;0.004	T	0.40942	-0.9536	9	.	.	.	-30.9012	1.3126	0.02101	0.1506:0.4031:0.1482:0.2981	.	546;84	Q14C87;Q14C87-2	T132D_HUMAN;.	I	84;546	ENSP00000374092:V84I;ENSP00000408581:V546I	.	V	-	1	0	TMEM132D	128135008	0.000000	0.05858	0.125000	0.21846	0.102000	0.19082	-0.286000	0.08399	0.058000	0.16222	0.561000	0.74099	GTC		TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
ZNF268	10795	hgsc.bcm.edu	37	12	133764550	133764550	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:133764550G>A	ENST00000536435.2	+	3	456	c.126G>A	c.(124-126)ctG>ctA	p.L42L	ZNF268_ENST00000542986.2_Silent_p.L42L|ZNF268_ENST00000541211.2_Silent_p.L42L|ZNF268_ENST00000228289.5_Silent_p.L42L|ZNF268_ENST00000537565.1_Intron|ZNF268_ENST00000416488.1_Silent_p.L207L|ZNF268_ENST00000541009.2_Silent_p.L42L|ZNF268_ENST00000539248.2_Silent_p.L42L|CTD-2140B24.4_ENST00000540096.2_Silent_p.L207L|ZNF268_ENST00000592241.1_Intron|ZNF268_ENST00000542711.2_Intron|ZNF268_ENST00000536899.2_Intron	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	42					cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CTCCTGGTCTGCAACCTCTCC	0.512																																																	0			12											42.0	43.0	43.0					12																	133764550		1864	4117	5981	132274623	SO:0001819	synonymous_variant	10795			X78926	CCDS45012.1, CCDS53851.1, CCDS53852.1, CCDS53853.1, CCDS53854.1, CCDS59239.1, CCDS59240.1	12q24.33	2013-01-08				ENSG00000090612		"""Zinc fingers, C2H2-type"", ""-"""	13061	protein-coding gene	gene with protein product		604753				7865130	Standard	NM_003415		Approved	HZF3	uc010tcf.2	Q14587	OTTHUMG00000167946	ENST00000536435.2:c.126G>A	12.37:g.133764550G>A		Somatic		Capture	Illumina HiSeq	Phase_I	132274623	Q8TDG8|Q96RH4|Q9BZJ9	Silent	SNP	ENST00000536435.2	37	CCDS45012.1																																																																																				ZNF268-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397191.2	NM_152943	
UBE3A	7337	hgsc.bcm.edu	37	15	25620840	25620840	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:25620840C>T	ENST00000397954.2	-	3	141	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	UBE3A_ENST00000428984.2_Missense_Mutation_p.A25T|UBE3A_ENST00000232165.3_Missense_Mutation_p.A45T|UBE3A_ENST00000566215.1_Missense_Mutation_p.A25T|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.A25T			Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	48					androgen receptor signaling pathway (GO:0030521)|brain development (GO:0007420)|ovarian follicle development (GO:0001541)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland growth (GO:0060736)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|sperm entry (GO:0035037)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTCGTGCAGGCTTCATTTCCA	0.418																																																	0			15											118.0	116.0	117.0					15																	25620840		2203	4300	6503	23171933	SO:0001583	missense	7337			AF002224	CCDS32177.1, CCDS45191.1, CCDS45192.1	15q11.2	2014-09-17	2008-07-31		ENSG00000114062	ENSG00000114062	6.3.2.19		12496	protein-coding gene	gene with protein product	"""Angelman syndrome"""	601623	"""human papilloma virus E6-associated protein"""	EPVE6AP, HPVE6A		8221889	Standard	NM_130838		Approved	AS, ANCR, E6-AP, FLJ26981	uc001zas.3	Q05086		ENST00000397954.2:c.142G>A	15.37:g.25620840C>T	ENSP00000381045:p.Ala48Thr	Somatic		Capture	Illumina HiSeq	Phase_I	23171933	A8K8Z9|P78355|Q93066|Q9UEP4|Q9UEP5|Q9UEP6|Q9UEP7|Q9UEP8|Q9UEP9	Missense_Mutation	SNP	ENST00000397954.2	37	CCDS45192.1	.	.	.	.	.	.	.	.	.	.	C	12.76	2.033604	0.35893	.	.	ENSG00000114062	ENST00000232165;ENST00000356465;ENST00000397954;ENST00000438097;ENST00000428984	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.97	5.97	0.96955	.	0.450432	0.26808	N	0.022386	T	0.13457	0.0326	L	0.34521	1.04	0.40056	D	0.975832	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.12785	-1.0534	10	0.14252	T	0.57	.	13.5933	0.61971	0.0:0.9293:0.0:0.0707	.	45;48	Q05086-3;Q05086	.;UBE3A_HUMAN	T	45;45;48;25;25	ENSP00000232165:A45T;ENSP00000381045:A48T;ENSP00000411258:A25T;ENSP00000401265:A25T	ENSP00000232165:A45T	A	-	1	0	UBE3A	23171933	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.145000	0.50623	2.835000	0.97688	0.591000	0.81541	GCC		UBE3A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000434203.1	NM_000462	
FBN1	2200	hgsc.bcm.edu	37	15	48764825	48764825	+	Missense_Mutation	SNP	C	C	A	rs397515804|rs397515803|rs398122934		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:48764825C>A	ENST00000316623.5	-	35	4714	c.4259G>T	c.(4258-4260)tGc>tTc	p.C1420F		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1420	EGF-like 24; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TGCATTGAGGCACTGGCCATT	0.532																																																	0			15											131.0	121.0	125.0					15																	48764825		2198	4296	6494	46552117	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.4259G>T	15.37:g.48764825C>A	ENSP00000325527:p.Cys1420Phe	Somatic		Capture	Illumina HiSeq	Phase_I	46552117	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	ENST00000316623.5	37	CCDS32232.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986071	0.93044	.	.	ENSG00000166147	ENST00000316623;ENST00000544030	D	0.99445	-5.91	5.81	5.81	0.92471	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	H	0.99325	4.515	0.80722	D	1	D	0.69078	0.997	D	0.83275	0.996	D	0.96813	0.9598	10	0.87932	D	0	.	19.6746	0.95926	0.0:1.0:0.0:0.0	.	1420	P35555	FBN1_HUMAN	F	1420;310	ENSP00000325527:C1420F	ENSP00000325527:C1420F	C	-	2	0	FBN1	46552117	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	TGC		FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417355.1		
TMOD3	29766	hgsc.bcm.edu	37	15	52181327	52181327	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:52181327C>A	ENST00000308580.7	+	5	762	c.481C>A	c.(481-483)Caa>Aaa	p.Q161K	TMOD3_ENST00000544199.1_Missense_Mutation_p.Q161K|RP11-56B16.5_ENST00000558142.1_RNA	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	161						striated muscle thin filament (GO:0005865)	tropomyosin binding (GO:0005523)	p.Q161E(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TGGTGTTGACCAAGAACATTT	0.294																																					Colon(122;1837 2251 18387 22826)												1	Substitution - Missense(1)	ovary(1)	15											74.0	75.0	75.0					15																	52181327		2194	4278	6472	49968619	SO:0001583	missense	29766			AF177171	CCDS10145.1	15q21.1-q21.2	2008-05-14			ENSG00000138594	ENSG00000138594			11873	protein-coding gene	gene with protein product		605112				10662549	Standard	NM_014547		Approved	UTMOD	uc002abn.3	Q9NYL9	OTTHUMG00000131803	ENST00000308580.7:c.481C>A	15.37:g.52181327C>A	ENSP00000308753:p.Gln161Lys	Somatic		Capture	Illumina HiSeq	Phase_I	49968619	B2R6G7|Q9NT43|Q9NZR0	Missense_Mutation	SNP	ENST00000308580.7	37	CCDS10145.1	.	.	.	.	.	.	.	.	.	.	C	1.744	-0.490947	0.04322	.	.	ENSG00000138594	ENST00000308580;ENST00000544199	T;T	0.12361	2.69;2.69	5.68	9.9E-4	0.14044	.	0.475067	0.22496	N	0.059297	T	0.03053	0.0090	N	0.01048	-1.04	0.30965	N	0.723239	B	0.02656	0.0	B	0.01281	0.0	T	0.46386	-0.9195	10	0.02654	T	1	-4.8208	9.5548	0.39332	0.389:0.3109:0.3001:0.0	.	161	Q9NYL9	TMOD3_HUMAN	K	161	ENSP00000308753:Q161K;ENSP00000438909:Q161K	ENSP00000308753:Q161K	Q	+	1	0	TMOD3	49968619	0.959000	0.32827	0.577000	0.28562	0.881000	0.50899	1.107000	0.31110	0.022000	0.15160	-0.150000	0.13652	CAA		TMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254740.3		
ONECUT1	3175	hgsc.bcm.edu	37	15	53049845	53049845	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:53049845G>A	ENST00000305901.5	-	2	1432	c.1305C>T	c.(1303-1305)aaC>aaT	p.N435N	ONECUT1_ENST00000561401.2_5'UTR|ONECUT1_ENST00000560699.2_3'UTR	NM_004498.2	NP_004489.1	Q9UBC0	HNF6_HUMAN	one cut homeobox 1	435					B cell differentiation (GO:0030183)|cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|endoderm development (GO:0007492)|epithelial cell development (GO:0002064)|glucose metabolic process (GO:0006006)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription, DNA-templated (GO:0006355)|spleen development (GO:0048536)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		TCCTTCTTGCGTTCATGAAGA	0.473																																																	0			15											155.0	144.0	147.0					15																	53049845		2194	4293	6487	50837137	SO:0001819	synonymous_variant	3175			U77975	CCDS10150.1	15q21.3	2012-03-09	2007-07-16		ENSG00000169856	ENSG00000169856		"""Homeoboxes / CUT class"""	8138	protein-coding gene	gene with protein product		604164	"""one cut domain, family member 1"""	HNF6, HNF6A		8887657, 8790352	Standard	NM_004498		Approved	HNF-6	uc002aci.2	Q9UBC0	OTTHUMG00000131899	ENST00000305901.5:c.1305C>T	15.37:g.53049845G>A		Somatic		Capture	Illumina HiSeq	Phase_I	50837137	B2RTV4|Q99744|Q9UMR6	Silent	SNP	ENST00000305901.5	37	CCDS10150.1																																																																																				ONECUT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254849.2		
RSL24D1	51187	hgsc.bcm.edu	37	15	55475542	55475542	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:55475542T>C	ENST00000260443.4	-	5	565	c.389A>G	c.(388-390)aAc>aGc	p.N130S		NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	130					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						AAGATGGATGTTTTGCTTGAC	0.353																																																	0			15											82.0	74.0	77.0					15																	55475542		2193	4292	6485	53262834	SO:0001583	missense	51187			AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"""chromosome 15 open reading frame 15"""	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.389A>G	15.37:g.55475542T>C	ENSP00000260443:p.Asn130Ser	Somatic		Capture	Illumina HiSeq	Phase_I	53262834	B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Missense_Mutation	SNP	ENST00000260443.4	37	CCDS10152.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.394849	0.42512	.	.	ENSG00000137876	ENST00000260443	.	.	.	5.46	3.16	0.36331	.	0.185032	0.56097	N	0.000022	T	0.56963	0.2021	M	0.72624	2.21	0.54753	D	0.999984	B	0.16166	0.016	B	0.12837	0.008	T	0.55042	-0.8202	9	0.44086	T	0.13	-32.6806	7.8302	0.29338	0.0:0.1709:0.0:0.8291	.	130	Q9UHA3	RLP24_HUMAN	S	130	.	ENSP00000260443:N130S	N	-	2	0	RSL24D1	53262834	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.349000	0.52217	0.887000	0.36136	-0.290000	0.09829	AAC		RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254916.1	NM_016304	
TPM1	7168	hgsc.bcm.edu	37	15	63335952	63335952	+	Intron	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:63335952G>A	ENST00000403994.3	+	2	194				TPM1_ENST00000560445.1_Intron|TPM1_ENST00000559556.1_Intron|TPM1_ENST00000357980.4_Silent_p.E54E|TPM1_ENST00000559397.1_Silent_p.E54E|TPM1_ENST00000288398.6_Intron|TPM1_ENST00000358278.3_Intron|RP11-244F12.3_ENST00000561241.1_RNA|TPM1_ENST00000267996.7_Silent_p.E54E	NM_001018005.1	NP_001018005.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction (GO:0060048)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|negative regulation of cell migration (GO:0030336)|positive regulation of ATPase activity (GO:0032781)|positive regulation of cell adhesion (GO:0045785)|positive regulation of heart rate by epinephrine (GO:0003065)|positive regulation of stress fiber assembly (GO:0051496)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|ruffle organization (GO:0031529)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|wound healing (GO:0042060)	bleb (GO:0032059)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|muscle thin filament tropomyosin (GO:0005862)|ruffle membrane (GO:0032587)|sarcomere (GO:0030017)|stress fiber (GO:0001725)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(1)|large_intestine(1)|lung(2)	4						GGGTGTCGGAGGACGAGCGGG	0.751																																																	0			15											12.0	16.0	15.0					15																	63335952		1982	3883	5865	61123005	SO:0001627	intron_variant	7168			AB209041	CCDS10181.1, CCDS32262.1, CCDS32263.1, CCDS32264.1, CCDS45273.1, CCDS58368.1, CCDS58369.1	15q22.1	2014-09-17			ENSG00000140416	ENSG00000140416		"""Tropomyosins"""	12010	protein-coding gene	gene with protein product		191010	"""chromosome 15 open reading frame 13"", ""cardiomyopathy, hypertrophic 3"""	C15orf13, CMH3		10343096, 8205619	Standard	XM_005254637		Approved		uc002all.3	P09493	OTTHUMG00000132803	ENST00000403994.3:c.115-274G>A	15.37:g.63335952G>A		Somatic		Capture	Illumina HiSeq	Phase_I	61123005	B7Z5T7|D9YZV2|D9YZV3|D9YZV8|P09494|P10469|Q6DV89|Q6DV90|Q7Z6L8|Q86W64|Q96IK2|Q9UCI1|Q9UCI2|Q9UCY9|Q9Y427	Silent	SNP	ENST00000403994.3	37	CCDS45273.1																																																																																				TPM1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000417083.2	NM_001018004	
NR2E3	10002	hgsc.bcm.edu	37	15	72106357	72106357	+	RNA	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:72106357G>A	ENST00000398840.2	+	0	1189							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						eye photoreceptor cell development (GO:0042462)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction (GO:0007602)|positive regulation of rhodopsin gene expression (GO:0045872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|visual perception (GO:0007601)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)	3						CCCCAGAGACGCGGGGCCTGA	0.612																																																	0			15											31.0	37.0	35.0					15																	72106357		2087	4212	6299	69893411			10002				CCDS73750.1, CCDS73751.1	15q23	2013-01-16			ENSG00000031544	ENSG00000278570		"""Nuclear hormone receptors"""	7974	protein-coding gene	gene with protein product		604485				10220376	Standard	NM_016346		Approved	PNR, rd7, RP37	uc002ath.1	Q9Y5X4	OTTHUMG00000172841		15.37:g.72106357G>A		Somatic		Capture	Illumina HiSeq	Phase_I	69893411	B6ZGU0|Q9UHM4	Missense_Mutation	SNP	ENST00000398840.2	37																																																																																					NR2E3-202	KNOWN	basic	processed_transcript	processed_transcript		NM_014249	
SIN3A	25942	hgsc.bcm.edu	37	15	75682045	75682045	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:75682045T>C	ENST00000394947.3	-	16	3283	c.2969A>G	c.(2968-2970)cAt>cGt	p.H990R	SIN3A_ENST00000360439.4_Missense_Mutation_p.H990R|SIN3A_ENST00000394949.4_Missense_Mutation_p.H990R	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						AATGTAGGCATGAATGGTGAA	0.483																																																	0			15											231.0	172.0	192.0					15																	75682045		2197	4294	6491	73469098	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.2969A>G	15.37:g.75682045T>C	ENSP00000378402:p.His990Arg	Somatic		Capture	Illumina HiSeq	Phase_I	73469098		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.804160	0.90623	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.44881	0.91;0.91;0.91	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.57481	-0.7804	10	0.34782	T	0.22	-24.0968	15.2953	0.73902	0.0:0.0:0.0:1.0	.	990	Q96ST3	SIN3A_HUMAN	R	990	ENSP00000378402:H990R;ENSP00000378403:H990R;ENSP00000353622:H990R	ENSP00000353622:H990R	H	-	2	0	SIN3A	73469098	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	7.978000	0.88095	2.214000	0.71695	0.528000	0.53228	CAT		SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477	
PEAK1	79834	hgsc.bcm.edu	37	15	77472051	77472051	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:77472051C>T	ENST00000560626.2	-	4	2693	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	PEAK1_ENST00000312493.4_Missense_Mutation_p.E740K|PEAK1_ENST00000558305.1_Missense_Mutation_p.E740K			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	740					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.E740K(2)									GCCACAGGCTCTTGAGTGGCT	0.507																																																	2	Substitution - Missense(2)	ovary(2)	15											94.0	90.0	91.0					15																	77472051		1957	4165	6122	75259106	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.2218G>A	15.37:g.77472051C>T	ENSP00000452796:p.Glu740Lys	Somatic		Capture	Illumina HiSeq	Phase_I	75259106	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	ENST00000560626.2	37	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.459024	0.63401	.	.	ENSG00000173517	ENST00000312493	T	0.70516	-0.49	5.89	5.89	0.94794	.	0.269388	0.16374	U	0.217216	T	0.62221	0.2410	L	0.29908	0.895	0.43076	D	0.994726	B	0.17852	0.024	B	0.15484	0.013	T	0.57063	-0.7875	10	0.51188	T	0.08	-12.7065	15.7106	0.77623	0.0:0.864:0.136:0.0	.	740	Q9H792	PEAK1_HUMAN	K	740	ENSP00000309230:E740K	ENSP00000309230:E740K	E	-	1	0	AC087465.1	75259106	1.000000	0.71417	0.693000	0.30195	0.777000	0.43975	7.161000	0.77505	2.793000	0.96121	0.655000	0.94253	GAG		PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
LINGO1	84894	hgsc.bcm.edu	37	15	77908090	77908090	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:77908090G>A	ENST00000355300.6	-	2	333	c.159C>T	c.(157-159)cgC>cgT	p.R53R	LINGO1_ENST00000561030.1_Silent_p.R47R	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	53	LRRNT.				central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACAGCACAGCGCGGTCCTGGG	0.692																																																	0			15											13.0	15.0	14.0					15																	77908090		2109	4205	6314	75695145	SO:0001819	synonymous_variant	84894			AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.159C>T	15.37:g.77908090G>A		Somatic		Capture	Illumina HiSeq	Phase_I	75695145	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	CCDS45313.1																																																																																				LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
ADAMTS7	11173	hgsc.bcm.edu	37	15	79058551	79058551	+	Silent	SNP	C	C	T	rs540501138	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:79058551C>T	ENST00000388820.4	-	19	3912	c.3702G>A	c.(3700-3702)ccG>ccA	p.P1234P	ADAMTS7_ENST00000566303.1_5'Flank	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1234					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGGTCTCGGGGGCAGGT	0.647													c|||	2	0.000399361	0.0	0.0	5008	,	,		14816	0.0		0.0	False		,,,				2504	0.002																0			15											23.0	26.0	25.0					15																	79058551		2193	4290	6483	76845606	SO:0001819	synonymous_variant	11173			AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.3702G>A	15.37:g.79058551C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76845606	Q14F51|Q6P7J9	Silent	SNP	ENST00000388820.4	37	CCDS32303.1																																																																																				ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
KLHL25	64410	hgsc.bcm.edu	37	15	86312925	86312925	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:86312925A>G	ENST00000337975.5	-	2	391	c.117T>C	c.(115-117)ctT>ctC	p.L39L	KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA|KLHL25_ENST00000536947.1_Silent_p.L39L	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	39					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						AGTGCTTGCGAAGCGTGTTGA	0.642																																																	0			15											74.0	70.0	72.0					15																	86312925		2202	4299	6501	84113929	SO:0001819	synonymous_variant	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.117T>C	15.37:g.86312925A>G		Somatic		Capture	Illumina HiSeq	Phase_I	84113929	B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	CCDS10339.1																																																																																				KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480	
IDH2	3418	hgsc.bcm.edu	37	15	90631879	90631879	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:90631879T>C	ENST00000330062.3	-	4	587	c.474A>G	c.(472-474)ccA>ccG	p.P158P	IDH2_ENST00000540499.2_Silent_p.P106P|IDH2_ENST00000539790.1_Silent_p.P28P|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	158					2-oxoglutarate metabolic process (GO:0006103)|carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GGACTAGGCGTGGGATGTTTT	0.587			M		GBM																																			Dom	yes		15	15q26.1	3418	"""socitrate dehydrogenase 2 (NADP+), mitochondrial """		M	0			15											114.0	110.0	111.0					15																	90631879		2200	4298	6498	88432883	SO:0001819	synonymous_variant	3418				CCDS10359.1	15q26.1	2014-09-17			ENSG00000182054	ENSG00000182054	1.1.1.42		5383	protein-coding gene	gene with protein product		147650					Standard	NM_001289910		Approved		uc002box.3	P48735	OTTHUMG00000149815	ENST00000330062.3:c.474A>G	15.37:g.90631879T>C		Somatic		Capture	Illumina HiSeq	Phase_I	88432883	B2R6L6|B4DFL2|Q96GT3	Silent	SNP	ENST00000330062.3	37	CCDS10359.1																																																																																				IDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313426.1		
ST8SIA2	8128	hgsc.bcm.edu	37	15	92988002	92988002	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:92988002C>T	ENST00000268164.3	+	5	922	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R208W	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	229					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	early endosome (GO:0005769)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|recycling endosome (GO:0055037)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GCTGCTGCAACGGCTGCACAG	0.602																																																	0			15											58.0	47.0	51.0					15																	92988002		2198	4298	6496	90789006	SO:0001583	missense	8128			U33551	CCDS10372.1	15q26	2013-03-01	2003-01-14	2005-02-07	ENSG00000140557	ENSG00000140557		"""Sialyltransferases"""	10870	protein-coding gene	gene with protein product		602546	"""sialyltransferase 8 (alpha-2, 8-sialytransferase) B"""	SIAT8B		7559389	Standard	NM_006011		Approved	STX, ST8SIA-II, HsT19690	uc002bra.3	Q92186	OTTHUMG00000149843	ENST00000268164.3:c.685C>T	15.37:g.92988002C>T	ENSP00000268164:p.Arg229Trp	Somatic		Capture	Illumina HiSeq	Phase_I	90789006	Q4VAZ0|Q92470|Q92746	Missense_Mutation	SNP	ENST00000268164.3	37	CCDS10372.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395033	0.96009	.	.	ENSG00000140557	ENST00000268164;ENST00000539113;ENST00000555434	T;T;T	0.30981	1.51;1.51;1.51	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.68256	0.2981	M	0.93550	3.43	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74922	-0.3499	10	0.54805	T	0.06	-8.6569	19.9991	0.97403	0.0:1.0:0.0:0.0	.	208;229	C6G488;Q92186	.;SIA8B_HUMAN	W	229;208;186	ENSP00000268164:R229W;ENSP00000437382:R208W;ENSP00000450851:R186W	ENSP00000268164:R229W	R	+	1	2	ST8SIA2	90789006	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.857000	0.69525	2.724000	0.93272	0.655000	0.94253	CGG		ST8SIA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313526.1	NM_006011	
IGF1R	3480	hgsc.bcm.edu	37	15	99500330	99500330	+	Missense_Mutation	SNP	A	A	G	rs149148921		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:99500330A>G	ENST00000268035.6	+	21	4374	c.3763A>G	c.(3763-3765)Atg>Gtg	p.M1255V	IGF1R_ENST00000558762.1_Missense_Mutation_p.M1254V|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1255	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TAACCCCAAGATGAGGCCTTC	0.582																																																	0			15											88.0	86.0	87.0					15																	99500330		2197	4297	6494	97317853	SO:0001583	missense	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3763A>G	15.37:g.99500330A>G	ENSP00000268035:p.Met1255Val	Somatic		Capture	Illumina HiSeq	Phase_I	97317853	B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	19.67	3.871123	0.72065	.	.	ENSG00000140443	ENST00000268035	D	0.82344	-1.6	5.57	5.57	0.84162	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.75004	0.3791	N	0.10707	0.03	0.80722	D	1	P;B	0.46912	0.886;0.414	P;P	0.47118	0.467;0.538	T	0.81035	-0.1115	10	0.72032	D	0.01	.	15.7266	0.77766	1.0:0.0:0.0:0.0	.	1254;1255	C9J5X1;P08069	.;IGF1R_HUMAN	V	1255	ENSP00000268035:M1255V	ENSP00000268035:M1255V	M	+	1	0	IGF1R	97317853	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.307000	0.96226	2.114000	0.64651	0.455000	0.32223	ATG		IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	NM_000875	
MAGIX	79917	hgsc.bcm.edu	37	X	49022416	49022416	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:49022416C>T	ENST00000412696.2	+	6	683	c.683C>T	c.(682-684)cCg>cTg	p.P228L	MAGIX_ENST00000376339.1_Intron|MAGIX_ENST00000498742.1_Intron|MAGIX_ENST00000425661.2_Missense_Mutation_p.P152L|MAGIX_ENST00000376338.3_Missense_Mutation_p.P169L	NM_024859.2	NP_079135.3	Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	228																	TCCGTAGTCCCGTCATGGCCA	0.602																																																	0			X											42.0	46.0	45.0					X																	49022416		2117	4213	6330	48909360	SO:0001583	missense	79917			AK025340	CCDS48106.1, CCDS48107.1, CCDS75976.1	Xp11.23	2014-05-06			ENSG00000017621	ENSG00000269313			30006	protein-coding gene	gene with protein product							Standard	XM_005278065		Approved	PDZX, JM10, FLJ21687	uc010nin.1	Q9H6Y5	OTTHUMG00000188218	ENST00000412696.2:c.683C>T	X.37:g.49022416C>T	ENSP00000387928:p.Pro228Leu	Somatic		Capture	Illumina HiSeq	Phase_I	48909360	A6XND4|A8MSX9|B7WP26|Q14C81	Missense_Mutation	SNP	ENST00000412696.2	37	CCDS48106.1	.	.	.	.	.	.	.	.	.	.	.	6.852	0.526445	0.13066	.	.	ENSG00000017621	ENST00000425661;ENST00000412696;ENST00000376338	T;T;T	0.29397	2.29;1.66;1.57	3.86	-1.14	0.09741	.	.	.	.	.	T	0.11067	0.0270	N	0.02539	-0.55	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.29212	-1.0019	9	0.32370	T	0.25	.	7.1581	0.25649	0.0:0.5438:0.0:0.4562	.	152;228;169	F8WCY7;Q9H6Y5;Q9H6Y5-2	.;MAGIX_HUMAN;.	L	152;228;169	ENSP00000403515:P152L;ENSP00000387928:P228L;ENSP00000365516:P169L	ENSP00000365516:P169L	P	+	2	0	MAGIX	48909360	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.200000	0.09478	-0.203000	0.10251	-0.306000	0.09157	CCG		MAGIX-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378832.1	NM_024859	
FAAH2	158584	hgsc.bcm.edu	37	X	57474964	57474965	+	Missense_Mutation	DNP	TT	TT	AA			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:57474964_57474965TT>AA	ENST00000374900.4	+	10	1356_1357	c.1236_1237TT>AA	c.(1234-1239)gcTTtg>gcAAtg	p.L413M	FAAH2_ENST00000491179.1_Intron	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	413						integral component of membrane (GO:0016021)	carbon-nitrogen ligase activity, with glutamine as amido-N-donor (GO:0016884)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TAGGACTGGCTTTGTTGGAAGA	0.342										HNSCC(52;0.14)																																							0			X																																								57491689|57491690	SO:0001583	missense	158584			AK055766	CCDS14375.1	Xp11.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000165591	ENSG00000165591			26440	protein-coding gene	gene with protein product		300654	"""amidase domain containing"""	AMDD		17015445	Standard	NM_174912		Approved	RP11-479E16.1, FLJ31204, FAAH-2	uc004dvc.3	Q6GMR7	OTTHUMG00000021684	Exception_encountered	X.37:g.57474964_57474965delinsAA	ENSP00000364035:p.Leu413Met	Somatic		Capture	Illumina HiSeq	Phase_I	57491689|57491690	Q86VT2|Q96N98	Silent|Missense_Mutation	SNP	ENST00000374900.4	37	CCDS14375.1																																																																																				FAAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056919.1	NM_174912	
AWAT2	158835	hgsc.bcm.edu	37	X	69262938	69262938	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:69262938G>A	ENST00000276101.3	-	5	633	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	210					wax biosynthetic process (GO:0010025)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)|retinol O-fatty-acyltransferase activity (GO:0050252)			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AGGGCCATGCGCACAAAGCCA	0.537																																					NSCLC(80;1334 1436 9350 24214 26427)												0			X											39.0	29.0	32.0					X																	69262938		2203	4295	6498	69179663	SO:0001583	missense	158835			BC063698	CCDS35320.1	Xq13.1	2009-02-23	2009-02-23	2009-02-23	ENSG00000147160	ENSG00000147160			23251	protein-coding gene	gene with protein product	"""multifunctional O-acyltransferase"""	300925	"""diacylglycerol O-acyltransferase 2-like 4"""	DGAT2L4		14970677, 16106050, 15671038	Standard	NM_001002254		Approved	MFAT	uc004dxt.1	Q6E213	OTTHUMG00000021763	ENST00000276101.3:c.628C>T	X.37:g.69262938G>A	ENSP00000421172:p.Arg210Cys	Somatic		Capture	Illumina HiSeq	Phase_I	69179663	Q6IEE3|Q6P437	Missense_Mutation	SNP	ENST00000276101.3	37	CCDS35320.1	.	.	.	.	.	.	.	.	.	.	G	12.06	1.825292	0.32237	.	.	ENSG00000147160	ENST00000276101	T	0.18810	2.19	4.95	1.99	0.26369	.	0.311546	0.27986	N	0.017052	T	0.50548	0.1622	M	0.93678	3.445	0.25604	N	0.986561	D	0.89917	1.0	D	0.78314	0.991	T	0.45804	-0.9236	10	0.87932	D	0	.	7.4258	0.27098	0.3282:0.0:0.6718:0.0	.	210	Q6E213	AWAT2_HUMAN	C	210	ENSP00000421172:R210C	ENSP00000421172:R210C	R	-	1	0	AWAT2	69179663	0.000000	0.05858	0.002000	0.10522	0.471000	0.32888	0.303000	0.19210	0.098000	0.17522	0.513000	0.50165	CGC		AWAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358738.1	NM_001002254	
RGAG4	340526	hgsc.bcm.edu	37	X	71350067	71350067	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:71350067G>T	ENST00000545866.1	-	1	1691	c.1324C>A	c.(1324-1326)Cca>Aca	p.P442T	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.P442T	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	442										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCAGTCCCTGGATCCTGCTGT	0.527																																																	0			X											204.0	204.0	204.0					X																	71350067		2142	4236	6378	71266792	SO:0001583	missense	340526			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808	ENST00000545866.1:c.1324C>A	X.37:g.71350067G>T	ENSP00000441366:p.Pro442Thr	Somatic		Capture	Illumina HiSeq	Phase_I	71266792	A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	G	8.800	0.932644	0.18131	.	.	ENSG00000242732	ENST00000545866;ENST00000479991	T;T	0.13538	2.58;2.58	2.8	2.8	0.32819	.	.	.	.	.	T	0.08891	0.0220	N	0.19112	0.55	0.09310	N	1	P	0.40970	0.734	B	0.39617	0.305	T	0.21348	-1.0248	8	.	.	.	.	8.395	0.32550	0.0:0.0:1.0:0.0	.	442	Q5HYW3	RGAG4_HUMAN	T	442	ENSP00000441366:P442T;ENSP00000418667:P442T	.	P	-	1	0	RGAG4	71266792	0.000000	0.05858	0.012000	0.15200	0.010000	0.07245	0.211000	0.17474	1.700000	0.51204	0.513000	0.50165	CCA		RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455	
NHSL2	340527	hgsc.bcm.edu	37	X	71359119	71359119	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:71359119G>T	ENST00000373677.1	+	2	1885	c.623G>T	c.(622-624)aGt>aTt	p.S208I	NHSL2_ENST00000535692.1_Missense_Mutation_p.S208I|NHSL2_ENST00000510661.1_Missense_Mutation_p.S343I|NHSL2_ENST00000540800.1_Missense_Mutation_p.S574I			Q5HYW2	NHSL2_HUMAN	NHS-like 2	208										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					CCCACACGCAGTGTCTCACTG	0.567																																																	0			X											80.0	58.0	65.0					X																	71359119		2202	4297	6499	71275844	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.623G>T	X.37:g.71359119G>T	ENSP00000362781:p.Ser208Ile	Somatic		Capture	Illumina HiSeq	Phase_I	71275844	B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	G	11.40	1.626940	0.28978	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.65178	0.61;-0.14;-0.14;-0.14	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.79251	0.4414	M	0.74647	2.275	0.47819	D	0.999522	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.81625	-0.0848	10	0.87932	D	0	-8.3869	16.0173	0.80450	0.0:0.0:1.0:0.0	.	574;343;208	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	I	574;208;343;208	ENSP00000444617:S574I;ENSP00000362781:S208I;ENSP00000424079:S343I;ENSP00000444914:S208I	ENSP00000362781:S208I	S	+	2	0	NHSL2	71275844	1.000000	0.71417	0.996000	0.52242	0.050000	0.14768	7.958000	0.87877	2.383000	0.81215	0.600000	0.82982	AGT		NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1	NM_001013627	
RLIM	51132	hgsc.bcm.edu	37	X	73811648	73811648	+	Missense_Mutation	SNP	G	G	A	rs200629905		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:73811648G>A	ENST00000332687.6	-	4	1720	c.1502C>T	c.(1501-1503)tCa>tTa	p.S501L	RLIM_ENST00000349225.2_Missense_Mutation_p.S501L	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	501	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S501L(3)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTGATGATGAGCTTCCTTC	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												3	Substitution - Missense(3)	prostate(2)|ovary(1)	X											45.0	38.0	40.0					X																	73811648		2203	4300	6503	73728373	SO:0001583	missense	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1502C>T	X.37:g.73811648G>A	ENSP00000328059:p.Ser501Leu	Somatic		Capture	Illumina HiSeq	Phase_I	73728373	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	G	7.117	0.577275	0.13686	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	T;T	0.08984	3.03;3.03	5.41	4.55	0.56014	.	0.666655	0.15400	N	0.264373	T	0.10121	0.0248	L	0.49126	1.545	0.38573	D	0.949983	B	0.02656	0.0	B	0.01281	0.0	T	0.08764	-1.0706	10	0.23891	T	0.37	-0.2985	13.4694	0.61273	0.0772:0.0:0.9228:0.0	.	501	Q9NVW2	RNF12_HUMAN	L	501	ENSP00000328059:S501L;ENSP00000253571:S501L	ENSP00000328059:S501L	S	-	2	0	RLIM	73728373	0.997000	0.39634	0.969000	0.41365	0.831000	0.47069	2.664000	0.46783	1.072000	0.40860	-0.192000	0.12808	TCA		RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120	
TENM1	10178	hgsc.bcm.edu	37	X	123517634	123517634	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:123517634T>C	ENST00000371130.3	-	29	7189	c.7126A>G	c.(7126-7128)Agg>Ggg	p.R2376G	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.R2383G	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2376					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCATAATCCCTTTGCCCCAGG	0.418																																																	0			X											136.0	129.0	131.0					X																	123517634		2203	4300	6503	123345315	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7126A>G	X.37:g.123517634T>C	ENSP00000360171:p.Arg2376Gly	Somatic		Capture	Illumina HiSeq	Phase_I	123345315	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898859	0.52227	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.93426	-3.22;-3.18	5.58	3.19	0.36642	.	0.000000	0.85682	D	0.000000	D	0.97324	0.9125	H	0.94847	3.59	0.58432	D	0.999997	D;D;P	0.76494	0.993;0.999;0.539	D;D;B	0.78314	0.977;0.991;0.085	D	0.97057	0.9768	10	0.87932	D	0	.	12.8937	0.58087	0.0:0.0:0.4489:0.5511	.	2382;2383;2376	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	G	2376;2383	ENSP00000360171:R2376G;ENSP00000403954:R2383G	ENSP00000360171:R2376G	R	-	1	2	ODZ1	123345315	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.438000	0.44837	0.320000	0.23234	0.486000	0.48141	AGG		TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
SLITRK4	139065	hgsc.bcm.edu	37	X	142718465	142718465	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:142718465G>T	ENST00000381779.4	-	2	685	c.460C>A	c.(460-462)Ctc>Atc	p.L154I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L154I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L154I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	154						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTTGTGGAGCTTATTGAAG	0.398																																																	0			X											82.0	82.0	82.0					X																	142718465		2203	4300	6503	142546131	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.460C>A	X.37:g.142718465G>T	ENSP00000371198:p.Leu154Ile	Somatic		Capture	Illumina HiSeq	Phase_I	142546131	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.970953	0.53614	.	.	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.70749	-0.51;-0.51;-0.51	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	D	0.86176	0.5870	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88400	0.3014	10	0.62326	D	0.03	-7.6672	16.593	0.84772	0.0:0.0:1.0:0.0	.	154	Q8IW52	SLIK4_HUMAN	I	154	ENSP00000371198:L154I;ENSP00000349400:L154I;ENSP00000336627:L154I	ENSP00000336627:L154I	L	-	1	0	SLITRK4	142546131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.408000	0.73285	2.231000	0.72958	0.600000	0.82982	CTC		SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
OTOP1	133060	hgsc.bcm.edu	37	4	4228435	4228435	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:4228435C>T	ENST00000296358.4	-	1	181	c.157G>A	c.(157-159)Gtc>Atc	p.V53I		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	53					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTCTGTGGGACGCTGGCGCGC	0.751																																																	0			4											6.0	6.0	6.0					4																	4228435		2125	4153	6278	4279336	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.157G>A	4.37:g.4228435C>T	ENSP00000296358:p.Val53Ile	Somatic		Capture	Illumina HiSeq	Phase_I	4279336	A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	C	7.694	0.691604	0.15039	.	.	ENSG00000163982	ENST00000296358	T	0.08896	3.04	4.08	-0.686	0.11324	.	0.163986	0.41605	U	0.000856	T	0.03608	0.0103	N	0.14661	0.345	0.24006	N	0.996191	B	0.27117	0.168	B	0.17722	0.019	T	0.42430	-0.9452	10	0.27082	T	0.32	.	6.6605	0.23011	0.6572:0.2365:0.0:0.1063	.	53	Q7RTM1	OTOP1_HUMAN	I	53	ENSP00000296358:V53I	ENSP00000296358:V53I	V	-	1	0	OTOP1	4279336	0.998000	0.40836	0.966000	0.40874	0.043000	0.13939	0.803000	0.27083	0.172000	0.19760	-0.719000	0.03609	GTC		OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998	
KIAA0232	9778	hgsc.bcm.edu	37	4	6862994	6862994	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:6862994A>G	ENST00000307659.5	+	7	1340	c.885A>G	c.(883-885)gcA>gcG	p.A295A	KIAA0232_ENST00000425103.1_Silent_p.A295A	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	295							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCAGTGAAGCAGGCTCAAGTT	0.448																																																	0			4											56.0	56.0	56.0					4																	6862994		1946	4137	6083	6913895	SO:0001819	synonymous_variant	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.885A>G	4.37:g.6862994A>G		Somatic		Capture	Illumina HiSeq	Phase_I	6913895	A7E2D2	Silent	SNP	ENST00000307659.5	37	CCDS43209.1																																																																																				KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743	
PI4K2B	55300	hgsc.bcm.edu	37	4	25258231	25258231	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:25258231A>T	ENST00000264864.6	+	4	880	c.691A>T	c.(691-693)Aag>Tag	p.K231*	PI4K2B_ENST00000512921.1_Nonsense_Mutation_p.K135*	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	231	PI3K/PI4K.				phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AAGAGGCAAAAAGTATGCTTT	0.373																																																	0			4											118.0	118.0	118.0					4																	25258231		2203	4300	6503	24867329	SO:0001587	stop_gained	55300			AK001967	CCDS3433.1	4p15.31	2009-05-07			ENSG00000038210	ENSG00000038210			18215	protein-coding gene	gene with protein product		612101				11923287	Standard	NM_018323		Approved	PI4KIIB, FLJ11105, PIK42B	uc003grk.2	Q8TCG2	OTTHUMG00000128564	ENST00000264864.6:c.691A>T	4.37:g.25258231A>T	ENSP00000264864:p.Lys231*	Somatic		Capture	Illumina HiSeq	Phase_I	24867329	Q9NUW2	Nonsense_Mutation	SNP	ENST00000264864.6	37	CCDS3433.1	.	.	.	.	.	.	.	.	.	.	A	39	7.902783	0.98551	.	.	ENSG00000038210	ENST00000512921;ENST00000264864;ENST00000537420	.	.	.	6.07	6.07	0.98685	.	0.041017	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0537	16.6406	0.85098	1.0:0.0:0.0:0.0	.	.	.	.	X	135;231;200	.	ENSP00000264864:K231X	K	+	1	0	PI4K2B	24867329	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.288000	0.96055	2.326000	0.78906	0.533000	0.62120	AAG		PI4K2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250415.1	NM_018323	
LIMCH1	22998	hgsc.bcm.edu	37	4	41694371	41694371	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:41694371A>G	ENST00000313860.7	+	26	3250	c.3196A>G	c.(3196-3198)Aac>Gac	p.N1066D	LIMCH1_ENST00000512946.1_Missense_Mutation_p.N1040D|LIMCH1_ENST00000396595.3_Missense_Mutation_p.N885D|LIMCH1_ENST00000508501.1_Missense_Mutation_p.N1039D|LIMCH1_ENST00000512820.1_Missense_Mutation_p.N1052D|RP11-227F19.5_ENST00000506475.1_RNA|LIMCH1_ENST00000514096.1_Missense_Mutation_p.N880D|LIMCH1_ENST00000503057.1_Missense_Mutation_p.N1450D|LIMCH1_ENST00000512632.1_Missense_Mutation_p.N963D|LIMCH1_ENST00000509277.1_Missense_Mutation_p.N899D|LIMCH1_ENST00000381753.4_Missense_Mutation_p.N873D|LIMCH1_ENST00000511496.1_Missense_Mutation_p.N880D|LIMCH1_ENST00000513024.1_Missense_Mutation_p.N893D	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	1066	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)	p.N1066H(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TGGTCTCCTGAACTGTAATGA	0.438																																																	1	Substitution - Missense(1)	ovary(1)	4											198.0	172.0	181.0					4																	41694371		2203	4300	6503	41389128	SO:0001583	missense	22998			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.3196A>G	4.37:g.41694371A>G	ENSP00000316891:p.Asn1066Asp	Somatic		Capture	Illumina HiSeq	Phase_I	41389128	A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.58|15.58	2.874960|2.874960	0.51695|0.51695	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753;ENST00000537405|ENST00000508466	D;D;D;D;D;D;D;D;D;D;D;D|.	0.87256|.	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Zinc finger, LIM-type (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.62048|.	0.2396|.	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.99;1.0;0.996;0.998;0.999;0.999;0.988;0.999;0.988;0.992;0.99;0.995|.	D;D;D;D;D;D;D;D;D;D;D;D|.	0.91635|.	0.975;0.999;0.985;0.926;0.995;0.998;0.992;0.986;0.971;0.995;0.991;0.994|.	T|.	0.59974|.	-0.7353|.	10|.	0.54805|.	T|.	0.06|.	-22.2006|-22.2006	14.8506|14.8506	0.70295|0.70295	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	880;816;899;963;873;885;1450;893;1052;1039;1040;1066|.	E7EPK0;B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	D|W	893;1039;1040;1066;963;1052;1450;880;1449;880;899;885;873;392|899	ENSP00000425222:N893D;ENSP00000424825:N1039D;ENSP00000424645:N1040D;ENSP00000316891:N1066D;ENSP00000427045:N963D;ENSP00000424437:N1052D;ENSP00000425631:N1450D;ENSP00000421242:N880D;ENSP00000426334:N880D;ENSP00000422864:N899D;ENSP00000379840:N885D;ENSP00000371172:N873D|.	ENSP00000316891:N1066D|.	N|X	+|+	1|3	0|0	LIMCH1|LIMCH1	41389128|41389128	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.094000|0.094000	0.18550|0.18550	8.529000|8.529000	0.90602|0.90602	2.094000|2.094000	0.63399|0.63399	0.455000|0.455000	0.32223|0.32223	AAC|TGA		LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
GUF1	60558	hgsc.bcm.edu	37	4	44680652	44680652	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:44680652G>C	ENST00000281543.5	+	1	207	c.13G>C	c.(13-15)Gtg>Ctg	p.V5L	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						GTGGACCCTCGTGGGTCGGGG	0.716																																																	0			4											5.0	6.0	6.0					4																	44680652		1795	3695	5490	44375409	SO:0001583	missense	60558				CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.13G>C	4.37:g.44680652G>C	ENSP00000281543:p.Val5Leu	Somatic		Capture	Illumina HiSeq	Phase_I	44375409		Missense_Mutation	SNP	ENST00000281543.5	37	CCDS3468.1	.	.	.	.	.	.	.	.	.	.	G	11.30	1.598968	0.28445	.	.	ENSG00000151806	ENST00000281543	T	0.68765	-0.35	4.01	0.232	0.15381	.	1.093000	0.07069	N	0.835135	T	0.42017	0.1184	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28681	-1.0036	10	0.54805	T	0.06	2.6077	2.472	0.04566	0.096:0.1639:0.4029:0.3372	.	5	Q8N442	GUF1_HUMAN	L	5	ENSP00000281543:V5L	ENSP00000281543:V5L	V	+	1	0	GUF1	44375409	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.087000	0.11215	-0.006000	0.14370	-0.899000	0.02877	GTG		GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250469.3	NM_021927	
KIT	3815	hgsc.bcm.edu	37	4	55561763	55561763	+	Silent	SNP	C	C	T	rs147363921		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:55561763C>T	ENST00000288135.5	+	2	250	c.153C>T	c.(151-153)ggC>ggT	p.G51G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	51	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G51G(4)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCCGCGTGGGCGACGAGATTA	0.478		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	4	Substitution - coding silent(4)	haematopoietic_and_lymphoid_tissue(3)|endometrium(1)	4						C	,	1,4405	2.1+/-5.4	0,1,2202	120.0	106.0	111.0		153,153	-0.6	0.0	4	dbSNP_134	111	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	KIT	NM_000222.2,NM_001093772.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	51/977,51/973	55561763	1,13005	2203	4300	6503	55256520	SO:0001819	synonymous_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.153C>T	4.37:g.55561763C>T		Somatic		Capture	Illumina HiSeq	Phase_I	55256520	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	hgsc.bcm.edu	37	4	55561765	55561765	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:55561765A>G	ENST00000288135.5	+	2	252	c.155A>G	c.(154-156)gAc>gGc	p.D52G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	52	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGCGTGGGCGACGAGATTAGG	0.473		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4											123.0	109.0	114.0					4																	55561765		2203	4300	6503	55256522	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.155A>G	4.37:g.55561765A>G	ENSP00000288135:p.Asp52Gly	Somatic		Capture	Illumina HiSeq	Phase_I	55256522	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	5.992	0.366905	0.11352	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.55760	0.5;0.5	5.19	-0.118	0.13547	Immunoglobulin-like fold (1);	0.500327	0.19497	N	0.112823	T	0.51227	0.1662	L	0.57536	1.79	0.09310	N	1	B;B	0.34061	0.0;0.436	B;P	0.45343	0.004;0.477	T	0.48969	-0.8987	10	0.49607	T	0.09	.	5.3253	0.15903	0.6004:0.1446:0.255:0.0	.	52;52	P10721-2;P10721	.;KIT_HUMAN	G	52	ENSP00000288135:D52G;ENSP00000390987:D52G	ENSP00000288135:D52G	D	+	2	0	KIT	55256522	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	1.709000	0.37909	0.089000	0.17243	-1.133000	0.01973	GAC		KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
LPHN3	23284	hgsc.bcm.edu	37	4	62936336	62936336	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:62936336C>A	ENST00000514591.1	+	25	4449	c.4120C>A	c.(4120-4122)Cat>Aat	p.H1374N	LPHN3_ENST00000504896.1_3'UTR|LPHN3_ENST00000512091.2_3'UTR|LPHN3_ENST00000506700.1_3'UTR|LPHN3_ENST00000514996.1_Missense_Mutation_p.H1408N|LPHN3_ENST00000511324.1_3'UTR|RP11-84A1.3_ENST00000504135.1_RNA|LPHN3_ENST00000545650.1_Missense_Mutation_p.H1374N|LPHN3_ENST00000506720.1_Missense_Mutation_p.H1485N|LPHN3_ENST00000508946.1_Missense_Mutation_p.H1417N|RP11-84A1.3_ENST00000506704.1_RNA|LPHN3_ENST00000507625.1_Missense_Mutation_p.H1433N|LPHN3_ENST00000514157.1_3'UTR|RP11-84A1.3_ENST00000509461.1_RNA|LPHN3_ENST00000508693.1_3'UTR|LPHN3_ENST00000507164.1_3'UTR|LPHN3_ENST00000509896.1_3'UTR|LPHN3_ENST00000506746.1_Missense_Mutation_p.H1476N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	1352					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGTCACCCCATAGAGACTC	0.562																																																	0			4											51.0	49.0	50.0					4																	62936336		692	1591	2283	62618931	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.4120C>A	4.37:g.62936336C>A	ENSP00000422533:p.His1374Asn	Somatic		Capture	Illumina HiSeq	Phase_I	62618931	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.058|0.058	-1.230329|-1.230329	0.01518|0.01518	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000514591;ENST00000545650;ENST00000295349;ENST00000507625;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T|T	0.67523|0.65178	-0.21;-0.21;-0.22;-0.26;-0.27;-0.27;-0.27|-0.14	5.39|5.39	4.46|4.46	0.54185|0.54185	GPCR, family 2, latrophilin, C-terminal (1);|.	0.386356|.	0.29624|.	N|.	0.011631|.	T|T	0.43500|0.43500	0.1250|0.1250	N|N	0.03324|0.03324	-0.35|-0.35	0.29448|0.29448	N|N	0.858701|0.858701	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.48103|0.48103	-0.9064|-0.9064	10|7	0.02654|0.87932	T|D	1|0	.|.	10.8544|10.8544	0.46789|0.46789	0.4225:0.5774:0.0:0.0|0.4225:0.5774:0.0:0.0	.|.	1374;1352|.	E9PE04;Q9HAR2|.	.;LPHN3_HUMAN|.	N|Q	1374;1374;1352;1433;1417;1485;1476;1408|822	ENSP00000422533:H1374N;ENSP00000439831:H1374N;ENSP00000421372:H1433N;ENSP00000421627:H1417N;ENSP00000420931:H1485N;ENSP00000425884:H1476N;ENSP00000424258:H1408N|ENSP00000424402:P822Q	ENSP00000295349:H1352N|ENSP00000424402:P822Q	H|P	+|+	1|2	0|0	LPHN3|LPHN3	62618931|62618931	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.919000|0.919000	0.55068|0.55068	4.657000|4.657000	0.61490|0.61490	2.535000|2.535000	0.85469|0.85469	0.591000|0.591000	0.81541|0.81541	CAT|CCA		LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
ODAM	54959	hgsc.bcm.edu	37	4	71064306	71064306	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:71064306A>G	ENST00000396094.2	+	5	434	c.386A>G	c.(385-387)tAt>tGt	p.Y129C		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	129	Gln-rich.				biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						GTGATGCCCTATGTATTCTCC	0.368																																																	0			4											109.0	107.0	108.0					4																	71064306		2203	4300	6503	71098895	SO:0001583	missense	54959			AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.386A>G	4.37:g.71064306A>G	ENSP00000379401:p.Tyr129Cys	Somatic		Capture	Illumina HiSeq	Phase_I	71098895	Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	13.40	2.224411	0.39300	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.51325	0.71;0.71	4.82	2.5	0.30297	.	0.174973	0.27936	N	0.017244	T	0.37705	0.1013	L	0.55481	1.735	0.31290	N	0.68954	B	0.26809	0.16	B	0.26770	0.073	T	0.44528	-0.9322	10	0.62326	D	0.03	-4.6304	4.5011	0.11865	0.6717:0.2236:0.1047:0.0	.	129	A1E959	ODAM_HUMAN	C	129;115;82	ENSP00000379401:Y129C;ENSP00000426106:Y82C	ENSP00000379401:Y129C	Y	+	2	0	ODAM	71098895	0.654000	0.27367	0.857000	0.33713	0.160000	0.22226	1.144000	0.31565	0.997000	0.38969	0.374000	0.22700	TAT		ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1	NM_017855	
BMP3	651	hgsc.bcm.edu	37	4	81967252	81967252	+	Missense_Mutation	SNP	G	G	A	rs373752528		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:81967252G>A	ENST00000282701.2	+	2	997	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	226					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|growth (GO:0040007)|ossification (GO:0001503)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	BMP receptor binding (GO:0070700)|receptor binding (GO:0005102)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCCAAGGGACGCCAGCTGCCA	0.433																																																	0			4						A	HIS/ARG	1,4405	825.9+/-416.6	0,1,2202	117.0	123.0	121.0		677	3.9	0.3	4		121	0,8600		0,0,4300	no	missense	BMP3	NM_001201.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	226/473	81967252	1,13005	2203	4300	6503	82186276	SO:0001583	missense	651			M22491	CCDS3588.1	4q21	2013-02-06	2008-05-22		ENSG00000152785	ENSG00000152785		"""Bone morphogenetic proteins"""	1070	protein-coding gene	gene with protein product	"""osteogenin"""	112263	"""bone morphogenetic protein 3 (osteogenic)"""				Standard	NM_001201		Approved		uc003hmg.4	P12645	OTTHUMG00000130292	ENST00000282701.2:c.677G>A	4.37:g.81967252G>A	ENSP00000282701:p.Arg226His	Somatic		Capture	Illumina HiSeq	Phase_I	82186276	Q4VAS5	Missense_Mutation	SNP	ENST00000282701.2	37	CCDS3588.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.429988	0.01117	2.27E-4	0.0	ENSG00000152785	ENST00000282701	T	0.73152	-0.72	5.08	3.91	0.45181	.	0.281576	0.41194	N	0.000936	T	0.35248	0.0925	N	0.00642	-1.3	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.26360	-1.0105	10	0.21540	T	0.41	.	8.793	0.34863	0.7757:0.0:0.2243:0.0	.	226	P12645	BMP3_HUMAN	H	226	ENSP00000282701:R226H	ENSP00000282701:R226H	R	+	2	0	BMP3	82186276	0.142000	0.22610	0.316000	0.25252	0.006000	0.05464	2.180000	0.42537	0.509000	0.28195	-0.254000	0.11334	CGC		BMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252634.1		
THAP9	79725	hgsc.bcm.edu	37	4	83839692	83839692	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:83839692A>G	ENST00000302236.5	+	5	2378	c.2327A>G	c.(2326-2328)gAg>gGg	p.E776G	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	776					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)	p.E776V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AATATTTGTGAGCGAGTTGTA	0.343																																																	1	Substitution - Missense(1)	ovary(1)	4											63.0	67.0	65.0					4																	83839692		2202	4299	6501	84058716	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2327A>G	4.37:g.83839692A>G	ENSP00000305533:p.Glu776Gly	Somatic		Capture	Illumina HiSeq	Phase_I	84058716	B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	A	8.414	0.844899	0.16963	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.93019	-3.15	3.82	3.82	0.43975	.	0.525224	0.16022	N	0.233280	D	0.92218	0.7532	L	0.34521	1.04	0.80722	D	1	D	0.60160	0.987	P	0.54544	0.755	D	0.91966	0.5583	10	0.72032	D	0.01	-11.1114	11.2867	0.49226	1.0:0.0:0.0:0.0	.	776	Q9H5L6	THAP9_HUMAN	G	776	ENSP00000305533:E776G	ENSP00000305533:E776G	E	+	2	0	THAP9	84058716	1.000000	0.71417	1.000000	0.80357	0.098000	0.18820	4.878000	0.63093	1.959000	0.56917	0.533000	0.62120	GAG		THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672	
HELQ	113510	hgsc.bcm.edu	37	4	84376732	84376732	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:84376732C>T	ENST00000295488.3	-	1	277	c.115G>A	c.(115-117)Gag>Aag	p.E39K	MRPS18C_ENST00000295491.4_5'Flank|HELQ_ENST00000510985.1_Missense_Mutation_p.E39K|MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000440639.2_5'UTR	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	39					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TCTTTCCCCTCATCTCCGGGC	0.622								Other identified genes with known or suspected DNA repair function			OREG0016254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			4											109.0	120.0	116.0					4																	84376732		2203	4300	6503	84595756	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.115G>A	4.37:g.84376732C>T	ENSP00000295488:p.Glu39Lys	Somatic	1228	Capture	Illumina HiSeq	Phase_I	84595756	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030851	0.54790	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.69306	-0.02;-0.39	5.12	4.28	0.50868	.	0.654924	0.13250	N	0.402143	T	0.49558	0.1564	N	0.19112	0.55	0.09310	N	1	B;P;B;B	0.37781	0.18;0.608;0.386;0.18	B;B;B;B	0.35550	0.083;0.205;0.085;0.083	T	0.39820	-0.9595	10	0.48119	T	0.1	-27.0389	9.195	0.37222	0.0:0.9032:0.0:0.0968	.	39;39;39;39	E3W980;E3W982;Q8TDG4-2;Q8TDG4	.;.;.;HELQ_HUMAN	K	39	ENSP00000295488:E39K;ENSP00000424539:E39K	ENSP00000295488:E39K	E	-	1	0	HELQ	84595756	0.007000	0.16637	0.086000	0.20670	0.020000	0.10135	1.638000	0.37165	1.387000	0.46486	0.462000	0.41574	GAG		HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
ADH1B	125	hgsc.bcm.edu	37	4	100235226	100235226	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:100235226A>G	ENST00000305046.8	-	6	647	c.580T>C	c.(580-582)Tct>Cct	p.S194P	ADH1B_ENST00000394887.3_Missense_Mutation_p.S154P			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	194					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	GCACAGGTAGAGCCTGGGGTG	0.468																																																	0			4											107.0	116.0	113.0					4																	100235226		2203	4300	6503	100454249	SO:0001583	missense	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.580T>C	4.37:g.100235226A>G	ENSP00000306606:p.Ser194Pro	Somatic		Capture	Illumina HiSeq	Phase_I	100454249	A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Missense_Mutation	SNP	ENST00000305046.8	37	CCDS34033.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.683449	0.47991	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	T;T	0.32272	1.46;1.46	3.81	3.81	0.43845	GroES-like (1);	0.000000	0.85682	D	0.000000	T	0.70482	0.3229	H	0.98996	4.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.82030	-0.0659	10	0.87932	D	0	-12.0051	12.5708	0.56337	1.0:0.0:0.0:0.0	.	181;154;194	F5HB16;A8MYN5;P00325	.;.;ADH1B_HUMAN	P	194;154;181	ENSP00000306606:S194P;ENSP00000378351:S154P	ENSP00000306606:S194P	S	-	1	0	ADH1B	100454249	1.000000	0.71417	0.981000	0.43875	0.050000	0.14768	8.453000	0.90349	1.343000	0.45638	0.459000	0.35465	TCT		ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364853.1	NM_000668	
COL25A1	84570	hgsc.bcm.edu	37	4	109780843	109780843	+	Missense_Mutation	SNP	T	T	C	rs72897032	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:109780843T>C	ENST00000399132.1	-	24	1819	c.1289A>G	c.(1288-1290)gAc>gGc	p.D430G	COL25A1_ENST00000399127.1_Missense_Mutation_p.D411G|COL25A1_ENST00000399126.1_Missense_Mutation_p.D430G	NM_198721.2	NP_942014.1			collagen, type XXV, alpha 1											NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		GCCGTTGTAGTCTATGATCTC	0.498													T|||	47	0.00938498	0.0356	0.0	5008	,	,		17660	0.0		0.0	False		,,,				2504	0.0																0			4						T	GLY/ASP,GLY/ASP	125,3869		3,119,1875	194.0	193.0	193.0		1289,1289	5.8	1.0	4	dbSNP_130	193	1,8317		0,1,4158	yes	missense,missense	COL25A1	NM_032518.2,NM_198721.1	94,94	3,120,6033	CC,CT,TT		0.012,3.1297,1.0234	probably-damaging,probably-damaging	430/643,430/655	109780843	126,12186	1997	4159	6156	110000292	SO:0001583	missense	84570			AF293340	CCDS43258.1, CCDS43259.1, CCDS58922.1	4q25	2013-01-16			ENSG00000188517	ENSG00000188517		"""Collagens"""	18603	protein-coding gene	gene with protein product		610004				11927537	Standard	NM_001256074		Approved		uc003hze.2	Q9BXS0	OTTHUMG00000150039	ENST00000399132.1:c.1289A>G	4.37:g.109780843T>C	ENSP00000382083:p.Asp430Gly	Somatic		Capture	Illumina HiSeq	Phase_I	110000292		Missense_Mutation	SNP	ENST00000399132.1	37	CCDS43258.1	16	0.007326007326007326	16	0.032520325203252036	0	0.0	0	0.0	0	0.0	T	17.48	3.401174	0.62288	0.031297	1.2E-4	ENSG00000188517	ENST00000399132;ENST00000333642;ENST00000401873;ENST00000399127;ENST00000399126;ENST00000443653	D;D;D	0.89681	-2.46;-2.55;-2.46	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.70002	0.3174	N	0.02103	-0.685	0.43007	D	0.994531	D;D	0.71674	0.998;0.993	D;D	0.81914	0.995;0.984	T	0.82906	-0.0225	9	.	.	.	-11.6297	16.1787	0.81885	0.0:0.0:0.0:1.0	.	430;430	Q9BXS0-2;Q9BXS0	.;COPA1_HUMAN	G	430;432;411;411;430;360	ENSP00000382083:D430G;ENSP00000382078:D411G;ENSP00000382077:D430G	.	D	-	2	0	COL25A1	110000292	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.435000	0.73412	2.219000	0.72066	0.528000	0.53228	GAC		COL25A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315938.2	NM_032518	
ITSN2	50618	hgsc.bcm.edu	37	2	24438975	24438975	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:24438975T>C	ENST00000355123.4	-	32	4376	c.3933A>G	c.(3931-3933)ggA>ggG	p.G1311G	ITSN2_ENST00000361999.3_Silent_p.G1284G|AC009228.1_ENST00000430105.1_RNA|AC009228.1_ENST00000413254.1_RNA|AC009228.1_ENST00000413989.1_RNA	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1311	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGAGCTGCTCCATTAAGCT	0.522																																																	0			2											79.0	79.0	79.0					2																	24438975		2203	4300	6503	24292479	SO:0001819	synonymous_variant	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3933A>G	2.37:g.24438975T>C		Somatic		Capture	Illumina HiSeq	Phase_I	24292479	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Silent	SNP	ENST00000355123.4	37	CCDS1710.2																																																																																				ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277	
OTOF	9381	hgsc.bcm.edu	37	2	26693516	26693516	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:26693516T>C	ENST00000272371.2	-	32	4094	c.3968A>G	c.(3967-3969)gAg>gGg	p.E1323G	OTOF_ENST00000403946.3_Missense_Mutation_p.E1323G|OTOF_ENST00000338581.6_Missense_Mutation_p.E556G|OTOF_ENST00000339598.3_Missense_Mutation_p.E556G|OTOF_ENST00000402415.3_Missense_Mutation_p.E633G	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1323			E -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCATGCTCTCGTCTGGCTC	0.592																																					GBM(102;732 1451 20652 24062 31372)												0			2											248.0	212.0	224.0					2																	26693516		2203	4300	6503	26547020	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3968A>G	2.37:g.26693516T>C	ENSP00000272371:p.Glu1323Gly	Somatic		Capture	Illumina HiSeq	Phase_I	26547020	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034219	0.75617	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;D;D	0.82619	-1.34;-1.34;-1.36;-1.63;-1.63	5.79	5.79	0.91817	.	0.045134	0.85682	D	0.000000	D	0.89466	0.6723	M	0.78637	2.42	0.80722	D	1	D;D;P;D	0.64830	0.994;0.993;0.947;0.977	P;P;P;P	0.58620	0.829;0.842;0.645;0.809	D	0.90068	0.4161	10	0.52906	T	0.07	-37.313	15.7917	0.78369	0.0:0.0:0.0:1.0	.	1323;556;633;556	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	G	556;556;633;1323;1323	ENSP00000345137:E556G;ENSP00000344521:E556G;ENSP00000383906:E633G;ENSP00000272371:E1323G;ENSP00000385255:E1323G	ENSP00000272371:E1323G	E	-	2	0	OTOF	26547020	1.000000	0.71417	0.997000	0.53966	0.441000	0.31987	7.934000	0.87649	2.218000	0.71995	0.533000	0.62120	GAG		OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3		
PRKD3	23683	hgsc.bcm.edu	37	2	37516584	37516584	+	Missense_Mutation	SNP	C	C	T	rs201601245		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:37516584C>T	ENST00000379066.1	-	5	1394	c.632G>A	c.(631-633)cGt>cAt	p.R211H	PRKD3_ENST00000234179.2_Missense_Mutation_p.R211H			O94806	KPCD3_HUMAN	protein kinase D3	211					intracellular signal transduction (GO:0035556)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATTTGACAGACGTCTCTTTCT	0.408																																					Melanoma(80;621 1355 8613 11814 51767)												0			2											109.0	104.0	106.0					2																	37516584		2203	4300	6503	37370088	SO:0001583	missense	23683			AB015982	CCDS1789.1	2p21	2013-01-10	2004-10-28	2004-10-30	ENSG00000115825	ENSG00000115825		"""Pleckstrin homology (PH) domain containing"""	9408	protein-coding gene	gene with protein product		607077	"""protein kinase C, nu"""	PRKCN		10231560	Standard	NM_005813		Approved	EPK2	uc002rqd.3	O94806	OTTHUMG00000100961	ENST00000379066.1:c.632G>A	2.37:g.37516584C>T	ENSP00000368356:p.Arg211His	Somatic		Capture	Illumina HiSeq	Phase_I	37370088	D6W587|Q53TR7|Q8NEL8	Missense_Mutation	SNP	ENST00000379066.1	37	CCDS1789.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.778168	0.90195	.	.	ENSG00000115825	ENST00000379066;ENST00000234179;ENST00000443187	T;T;D	0.86627	-0.33;-0.33;-2.15	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.92993	0.7770	M	0.69823	2.125	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.76575	0.988;0.919	D	0.92976	0.6402	10	0.51188	T	0.08	-16.5232	18.7091	0.91649	0.0:1.0:0.0:0.0	.	211;211	O94806-2;O94806	.;KPCD3_HUMAN	H	211;211;107	ENSP00000368356:R211H;ENSP00000234179:R211H;ENSP00000401839:R107H	ENSP00000234179:R211H	R	-	2	0	PRKD3	37370088	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.089000	0.71384	2.404000	0.81709	0.655000	0.94253	CGT		PRKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218570.3	NM_005813	
GTF2A1L	11036	hgsc.bcm.edu	37	2	48873741	48873741	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:48873741C>G	ENST00000403751.3	+	6	575	c.538C>G	c.(538-540)Ctt>Gtt	p.L180V	STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.L884V|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.L884V|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.L837V|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.L884V|LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.L146V|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.L884V	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	180					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TCCATGGTCTCTTCAAGCAAC	0.418																																																	0			2											92.0	91.0	91.0					2																	48873741		2203	4300	6503	48727245	SO:0001583	missense	11036			AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.538C>G	2.37:g.48873741C>G	ENSP00000384597:p.Leu180Val	Somatic		Capture	Illumina HiSeq	Phase_I	48727245	B4DY14|Q53FD9|Q5D050	Missense_Mutation	SNP	ENST00000403751.3	37	CCDS46281.1	.	.	.	.	.	.	.	.	.	.	C	2.415	-0.334536	0.05278	.	.	ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000242441;ENSG00000242441;ENSG00000242441;ENSG00000242441	ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751;ENST00000394749;ENST00000448460;ENST00000437125;ENST00000430487;ENST00000403751	T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	5.21	1.08	0.20341	.	0.320138	0.24813	N	0.035393	T	0.19525	0.0469	N	0.20483	0.58	0.21325	N	0.999721	B;B;B;B;B	0.24043	0.096;0.005;0.001;0.026;0.01	B;B;B;B;B	0.22152	0.038;0.004;0.007;0.022;0.015	T	0.16689	-1.0394	10	0.10636	T	0.68	.	4.0286	0.09698	0.1401:0.3895:0.3798:0.0905	.	146;837;884;180;884	Q9UNN4-2;A8MXJ1;B5MCF5;Q9UNN4;Q53S48	.;.;.;TF2AY_HUMAN;.	V	884;884;884;884;837;179;146;189;146;180	ENSP00000385499:L884V;ENSP00000385701:L884V;ENSP00000378236:L884V;ENSP00000311493:L884V;ENSP00000378234:L837V;ENSP00000412645:L146V;ENSP00000396702:L189V;ENSP00000387896:L146V;ENSP00000384597:L180V	ENSP00000384597:L180V	L	+	1	0	STON1-GTF2A1L;GTF2A1L	48727245	0.248000	0.23930	0.009000	0.14445	0.469000	0.32828	0.636000	0.24644	0.329000	0.23460	-0.229000	0.12294	CTT		GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	NM_006872	
WDPCP	51057	hgsc.bcm.edu	37	2	63714587	63714587	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:63714587G>T	ENST00000272321.7	-	3	729	c.202C>A	c.(202-204)Cca>Aca	p.P68T	WDPCP_ENST00000409562.3_Missense_Mutation_p.P68T|WDPCP_ENST00000409835.1_5'UTR	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	68					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						TTACCTGGTGGATCTTTCTTG	0.303																																																	0			2											43.0	43.0	43.0					2																	63714587		1792	4056	5848	63568091	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.202C>A	2.37:g.63714587G>T	ENSP00000272321:p.Pro68Thr	Somatic		Capture	Illumina HiSeq	Phase_I	63568091	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	6.024	0.372852	0.11409	.	.	ENSG00000143951	ENST00000272321;ENST00000409562;ENST00000431065	T;T;T	0.77877	-0.59;0.0;-1.13	4.66	0.746	0.18365	.	0.609878	0.16642	N	0.205582	T	0.59101	0.2169	L	0.31926	0.97	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.34428	-0.9829	10	0.17832	T	0.49	0.1185	3.6268	0.08116	0.1867:0.0:0.4676:0.3457	.	68;68	O95876-2;O95876	.;FRITZ_HUMAN	T	68	ENSP00000272321:P68T;ENSP00000387222:P68T;ENSP00000396226:P68T	ENSP00000272321:P68T	P	-	1	0	WDPCP	63568091	0.092000	0.21681	0.088000	0.20740	0.995000	0.86356	0.587000	0.23909	0.123000	0.18342	-0.188000	0.12872	CCA		WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910	
PCYOX1	51449	hgsc.bcm.edu	37	2	70485397	70485397	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:70485397C>A	ENST00000433351.2	+	1	129	c.101C>A	c.(100-102)cCa>cAa	p.P34Q	PCYOX1_ENST00000505044.2_Intron|PCYOX1_ENST00000545138.1_5'Flank|PCYOX1_ENST00000264441.5_Missense_Mutation_p.P34Q	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	34					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CGTGCTCCGCCAGATAAAATC	0.731																																																	0			2											18.0	21.0	20.0					2																	70485397		2199	4296	6495	70338901	SO:0001583	missense	51449			AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.101C>A	2.37:g.70485397C>A	ENSP00000387654:p.Pro34Gln	Somatic		Capture	Illumina HiSeq	Phase_I	70338901	B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Missense_Mutation	SNP	ENST00000433351.2	37	CCDS1902.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.230839	0.58777	.	.	ENSG00000116005	ENST00000433351;ENST00000264441	T;T	0.46819	2.4;0.86	4.51	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.52500	0.1738	N	0.19112	0.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.57877	-0.7735	10	0.87932	D	0	-12.052	12.6318	0.56661	0.0:1.0:0.0:0.0	.	34;34	B7Z8A2;Q9UHG3	.;PCYOX_HUMAN	Q	34	ENSP00000387654:P34Q;ENSP00000264441:P34Q	ENSP00000264441:P34Q	P	+	2	0	PCYOX1	70338901	0.987000	0.35691	0.559000	0.28332	0.049000	0.14656	3.473000	0.53122	2.344000	0.79699	0.499000	0.49734	CCA		PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297	
CD207	50489	hgsc.bcm.edu	37	2	71058201	71058201	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:71058201A>C	ENST00000410009.3	-	6	1012	c.967T>G	c.(967-969)Tat>Gat	p.Y323D		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	323					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						GATGGGACATAGGGTCGCTTA	0.483																																																	0			2											90.0	85.0	87.0					2																	71058201		1940	4139	6079	70911709	SO:0001583	missense	50489			AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.967T>G	2.37:g.71058201A>C	ENSP00000386378:p.Tyr323Asp	Somatic		Capture	Illumina HiSeq	Phase_I	70911709		Missense_Mutation	SNP	ENST00000410009.3	37		.	.	.	.	.	.	.	.	.	.	A	14.00	2.404347	0.42613	.	.	ENSG00000116031	ENST00000410009	T	0.16597	2.33	3.58	3.58	0.41010	C-type lectin fold (1);	0.309269	0.23780	N	0.044625	T	0.29850	0.0746	L	0.61036	1.89	0.09310	N	1	D	0.76494	0.999	P	0.60345	0.873	T	0.03597	-1.1021	10	0.36615	T	0.2	.	8.8378	0.35123	1.0:0.0:0.0:0.0	.	323	Q9UJ71	CLC4K_HUMAN	D	323	ENSP00000386378:Y323D	ENSP00000386378:Y323D	Y	-	1	0	CD207	70911709	0.413000	0.25400	0.037000	0.18230	0.043000	0.13939	1.780000	0.38634	1.864000	0.54056	0.523000	0.50628	TAT		CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
VAX2	25806	hgsc.bcm.edu	37	2	71159919	71159919	+	Missense_Mutation	SNP	G	G	A	rs145503713		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:71159919G>A	ENST00000234392.2	+	3	490	c.458G>A	c.(457-459)cGc>cAc	p.R153H	snoU13_ENST00000459218.1_RNA	NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	153					axonogenesis (GO:0007409)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic eye morphogenesis (GO:0048048)|forebrain development (GO:0030900)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						TTCCAGAACCGCCGCACCAAG	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		9528	0.0		0.0	False		,,,				2504	0.0																0			2						G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	32.0	35.0	34.0		458	4.9	1.0	2	dbSNP_134	34	0,8600		0,0,4300	no	missense	VAX2	NM_012476.2	29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	153/291	71159919	2,13004	2203	4300	6503	71013427	SO:0001583	missense	25806			Y17791	CCDS1911.1	2p13.3	2011-06-20			ENSG00000116035	ENSG00000116035		"""Homeoboxes / ANTP class : NKL subclass"""	12661	protein-coding gene	gene with protein product		604295				10485894	Standard	NM_012476		Approved	DRES93	uc002shh.3	Q9UIW0	OTTHUMG00000129714	ENST00000234392.2:c.458G>A	2.37:g.71159919G>A	ENSP00000234392:p.Arg153His	Somatic		Capture	Illumina HiSeq	Phase_I	71013427	Q53Y33	Missense_Mutation	SNP	ENST00000234392.2	37	CCDS1911.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971841	0.92919	4.54E-4	0.0	ENSG00000116035	ENST00000234392	D	0.97553	-4.43	4.91	4.91	0.64330	Homeobox, eukaryotic (1);Homeodomain-related (1);Helix-turn-helix motif, lambda-like repressor (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98661	0.9551	H	0.94385	3.53	0.80722	D	1	D	0.61080	0.989	P	0.60886	0.88	D	0.99716	1.1008	10	0.87932	D	0	-19.2815	15.5791	0.76418	0.0:0.0:1.0:0.0	.	153	Q9UIW0	VAX2_HUMAN	H	153	ENSP00000234392:R153H	ENSP00000234392:R153H	R	+	2	0	VAX2	71013427	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.528000	0.98046	2.250000	0.74265	0.491000	0.48974	CGC		VAX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251923.1		
DYSF	8291	hgsc.bcm.edu	37	2	71801460	71801460	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:71801460A>T	ENST00000258104.3	+	30	3584	c.3307A>T	c.(3307-3309)Aag>Tag	p.K1103*	DYSF_ENST00000429174.2_Nonsense_Mutation_p.K1103*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.K1104*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.K1104*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.K1135*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.K1120*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.K1120*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.K1121*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.K1090*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.K1134*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.K1121*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1103					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCACTGGAGAAGACGGGGCC	0.622																																																	0			2	GRCh37	CM066054	DYSF	M							76.0	86.0	83.0					2																	71801460		2203	4300	6503	71654968	SO:0001587	stop_gained	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3307A>T	2.37:g.71801460A>T	ENSP00000258104:p.Lys1103*	Somatic		Capture	Illumina HiSeq	Phase_I	71654968	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	A	45	11.750993	0.99599	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.6	3.02	0.34903	.	0.114692	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-29.1268	10.6142	0.45441	0.6776:0.3224:0.0:0.0	.	.	.	.	X	1134;1120;1120;1103;1103;1135;1104;1090;1104;1121;1121	.	ENSP00000258104:K1103X	K	+	1	0	DYSF	71654968	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.623000	0.46435	2.123000	0.65237	0.528000	0.53228	AAG		DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494	
ALMS1	7840	hgsc.bcm.edu	37	2	73676445	73676445	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:73676445G>T	ENST00000264448.6	+	8	2899	c.2788G>T	c.(2788-2790)Gct>Tct	p.A930S	ALMS1_ENST00000409009.1_Missense_Mutation_p.A888S|ALMS1_ENST00000377715.1_Missense_Mutation_p.A930S	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	930	34 X 47 AA approximate tandem repeat.				endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCTGAAGAAGCTCTGAAGGT	0.463																																																	0			2											71.0	71.0	71.0					2																	73676445		1829	4093	5922	73529953	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.2788G>T	2.37:g.73676445G>T	ENSP00000264448:p.Ala930Ser	Somatic		Capture	Illumina HiSeq	Phase_I	73529953	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	ENST00000264448.6	37	CCDS42697.1	.	.	.	.	.	.	.	.	.	.	G	9.630	1.136146	0.21123	.	.	ENSG00000116127	ENST00000409009;ENST00000264448;ENST00000377715	T;T;T	0.14144	3.42;3.42;2.53	3.64	-2.46	0.06461	.	.	.	.	.	T	0.18215	0.0437	L	0.50333	1.59	0.09310	N	1	P;D;P	0.57899	0.793;0.981;0.48	B;P;B	0.53760	0.199;0.734;0.082	T	0.16482	-1.0401	9	0.31617	T	0.26	.	8.7532	0.34631	0.6703:0.0:0.3297:0.0	.	930;888;930	Q8TCU4-3;B8ZZJ3;Q8TCU4	.;.;ALMS1_HUMAN	S	888;930;930	ENSP00000386627:A888S;ENSP00000264448:A930S;ENSP00000366944:A930S	ENSP00000264448:A930S	A	+	1	0	ALMS1	73529953	0.000000	0.05858	0.000000	0.03702	0.171000	0.22731	-2.179000	0.01259	-0.634000	0.05538	0.591000	0.81541	GCT		ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327776.1	NM_015120	
CTNNA2	1496	hgsc.bcm.edu	37	2	80874935	80874935	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:80874935C>A	ENST00000402739.4	+	18	2805	c.2800C>A	c.(2800-2802)Cag>Aag	p.Q934K	CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q565K|CTNNA2_ENST00000466387.1_Missense_Mutation_p.Q886K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q920K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q886K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q886K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Q841K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	934					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						ACGAGGTTCTCAGAAGAAACA	0.423																																																	0			2											124.0	123.0	123.0					2																	80874935		1844	4085	5929	80728446	SO:0001583	missense	1496				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.2800C>A	2.37:g.80874935C>A	ENSP00000384638:p.Gln934Lys	Somatic		Capture	Illumina HiSeq	Phase_I	80728446	B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37		.	.	.	.	.	.	.	.	.	.	C	17.70	3.453280	0.63290	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114	T;T;T;T;T;T;T	0.39406	1.18;1.18;1.16;1.08;1.18;1.1;2.42	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.34978	0.0916	N	0.21282	0.65	0.80722	D	1	B;P;B;P	0.36909	0.016;0.573;0.338;0.534	B;B;B;B	0.37780	0.017;0.258;0.135;0.143	T	0.04255	-1.0965	9	.	.	.	.	20.3658	0.98878	0.0:1.0:0.0:0.0	.	518;934;841;886	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	K	886;886;920;934;886;841;565	ENSP00000418191:Q886K;ENSP00000419295:Q886K;ENSP00000355398:Q920K;ENSP00000384638:Q934K;ENSP00000444675:Q886K;ENSP00000441705:Q841K;ENSP00000341500:Q565K	.	Q	+	1	0	CTNNA2	80728446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.820000	0.97059	0.650000	0.86243	CAG		CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389	
VWA3B	200403	hgsc.bcm.edu	37	2	98804463	98804463	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:98804463C>T	ENST00000477737.1	+	10	1541	c.1337C>T	c.(1336-1338)gCa>gTa	p.A446V	VWA3B_ENST00000435344.1_Missense_Mutation_p.A446V|VWA3B_ENST00000451075.2_Missense_Mutation_p.A296V	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	446										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACAGTCCATGCAAAATATTGC	0.478																																																	0			2											82.0	80.0	81.0					2																	98804463		1935	4148	6083	98170895	SO:0001583	missense	200403			AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.1337C>T	2.37:g.98804463C>T	ENSP00000417955:p.Ala446Val	Somatic		Capture	Illumina HiSeq	Phase_I	98170895	B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Missense_Mutation	SNP	ENST00000477737.1	37	CCDS42718.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504768	0.85176	.	.	ENSG00000168658	ENST00000435344;ENST00000477737;ENST00000451075	T;T;T	0.30714	1.52;2.89;2.22	4.76	4.76	0.60689	.	0.000000	0.56097	D	0.000035	T	0.54838	0.1883	M	0.66939	2.045	0.30584	N	0.762227	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.999;1.0	T	0.59461	-0.7450	10	0.72032	D	0.01	.	16.8999	0.86110	0.0:1.0:0.0:0.0	.	296;446;446	B7Z7Q7;Q502W6;Q502W6-8	.;VWA3B_HUMAN;.	V	446;446;296	ENSP00000401959:A446V;ENSP00000417955:A446V;ENSP00000389463:A296V	ENSP00000388158:A446V	A	+	2	0	VWA3B	98170895	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	5.259000	0.65485	2.336000	0.79503	0.460000	0.39030	GCA		VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992	
NCK2	8440	hgsc.bcm.edu	37	2	106497813	106497813	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:106497813G>A	ENST00000233154.4	+	4	698	c.256G>A	c.(256-258)Gcg>Acg	p.A86T	NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Missense_Mutation_p.A86T|NCK2_ENST00000451463.2_Intron	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2	86					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GAAGACCAGCGCGCGGGATGC	0.677																																																	0			2											25.0	27.0	27.0					2																	106497813		2202	4293	6495	105864245	SO:0001583	missense	8440			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.256G>A	2.37:g.106497813G>A	ENSP00000233154:p.Ala86Thr	Somatic		Capture	Illumina HiSeq	Phase_I	105864245	D3DVK1|Q9BWN9|Q9UIC3	Missense_Mutation	SNP	ENST00000233154.4	37	CCDS33266.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.234245	0.22626	.	.	ENSG00000071051	ENST00000233154;ENST00000393348;ENST00000425756;ENST00000393349	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.64	3.82	0.43975	.	0.146868	0.64402	D	0.000007	T	0.22781	0.0550	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.05920	-1.0856	10	0.13108	T	0.6	.	10.4333	0.44419	0.209:0.0:0.791:0.0	.	86	O43639	NCK2_HUMAN	T	86	ENSP00000233154:A86T;ENSP00000377017:A86T;ENSP00000408040:A86T;ENSP00000377018:A86T	ENSP00000233154:A86T	A	+	1	0	NCK2	105864245	1.000000	0.71417	0.931000	0.37212	0.623000	0.37688	5.286000	0.65639	1.524000	0.49035	0.563000	0.77884	GCG		NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329634.1	NM_003581	
SLC5A7	60482	hgsc.bcm.edu	37	2	108626706	108626706	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:108626706G>A	ENST00000264047.2	+	9	1408	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	SLC5A7_ENST00000409059.1_Missense_Mutation_p.V378I|SLC5A7_ENST00000540517.1_Missense_Mutation_p.V273I	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	378					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)	p.V378I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CAAAGAAATCGTTTGGGTTAT	0.443																																																	2	Substitution - Missense(2)	ovary(1)|pancreas(1)	2											148.0	120.0	129.0					2																	108626706		2203	4300	6503	107993138	SO:0001583	missense	60482			AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.1132G>A	2.37:g.108626706G>A	ENSP00000264047:p.Val378Ile	Somatic		Capture	Illumina HiSeq	Phase_I	107993138	Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	37	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	8.887	0.953064	0.18431	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.89050	-2.46;-2.46;-2.46	5.85	2.92	0.33932	.	0.168277	0.51477	N	0.000083	T	0.79724	0.4495	N	0.25647	0.755	0.49915	D	0.999832	B	0.06786	0.001	B	0.10450	0.005	T	0.70360	-0.4893	10	0.31617	T	0.26	-25.0208	8.2684	0.31829	0.1388:0.0:0.7353:0.1259	.	378	Q9GZV3	SC5A7_HUMAN	I	378;273;378	ENSP00000387346:V378I;ENSP00000445351:V273I;ENSP00000264047:V378I	ENSP00000264047:V378I	V	+	1	0	SLC5A7	107993138	1.000000	0.71417	0.256000	0.24389	0.798000	0.45092	4.104000	0.57790	0.773000	0.33404	-0.143000	0.13931	GTT		SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
NCKAP5	344148	hgsc.bcm.edu	37	2	133540011	133540011	+	Missense_Mutation	SNP	G	G	A	rs112873686	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:133540011G>A	ENST00000409261.1	-	14	4746	c.4373C>T	c.(4372-4374)gCg>gTg	p.A1458V	NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1458V|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1458										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGCATCAGTCGCGGTTGCAGA	0.502													G|||	2	0.000399361	0.0	0.0014	5008	,	,		17664	0.001		0.0	False		,,,				2504	0.0																0			2						G	VAL/ALA,	3,3829		0,3,1913	52.0	51.0	52.0		4373,	-1.7	0.0	2	dbSNP_132	52	0,8254		0,0,4127	no	missense,intron	NCKAP5	NM_207363.2,NM_207481.3	64,	0,3,6040	AA,AG,GG		0.0,0.0783,0.0248	benign,	1458/1910,	133540011	3,12083	1916	4127	6043	133256481	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.4373C>T	2.37:g.133540011G>A	ENSP00000387128:p.Ala1458Val	Somatic		Capture	Illumina HiSeq	Phase_I	133256481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	G	1.996	-0.430615	0.04669	7.83E-4	0.0	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.09538	2.97;2.97	5.5	-1.71	0.08133	.	.	.	.	.	T	0.03520	0.0101	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44862	-0.9300	9	0.15499	T	0.54	.	0.1091	0.00054	0.2625:0.2602:0.2008:0.2765	.	1458	O14513	NCKP5_HUMAN	V	1458	ENSP00000387128:A1458V;ENSP00000380603:A1458V	ENSP00000380603:A1458V	A	-	2	0	NCKAP5	133256481	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.520000	0.06252	-0.269000	0.09298	-0.823000	0.03104	GCG		NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
LCT	3938	hgsc.bcm.edu	37	2	136570467	136570467	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:136570467A>G	ENST00000264162.2	-	7	1777	c.1767T>C	c.(1765-1767)caT>caC	p.H589H	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	589	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.H589Q(2)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GCTGTGGGCGATGATGGCTGT	0.532																																																	2	Substitution - Missense(2)	lung(2)	2											51.0	46.0	48.0					2																	136570467		2203	4300	6503	136286937	SO:0001819	synonymous_variant	3938			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1767T>C	2.37:g.136570467A>G		Somatic		Capture	Illumina HiSeq	Phase_I	136286937	Q4ZG58	Silent	SNP	ENST00000264162.2	37	CCDS2178.1																																																																																				LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
LRP1B	53353	hgsc.bcm.edu	37	2	141116394	141116394	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:141116394A>T	ENST00000389484.3	-	73	12224	c.11253T>A	c.(11251-11253)tgT>tgA	p.C3751*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3751	LDL-receptor class A 31. {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)		ATTTACCACCACAGTGATCTT	0.378										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0			2											194.0	177.0	183.0					2																	141116394		2203	4299	6502	140832864	SO:0001587	stop_gained	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.11253T>A	2.37:g.141116394A>T	ENSP00000374135:p.Cys3751*	Somatic		Capture	Illumina HiSeq	Phase_I	140832864	Q8WY29|Q8WY30|Q8WY31	Nonsense_Mutation	SNP	ENST00000389484.3	37	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	A	56	25.930568	0.99967	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.33	1.77	0.24775	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1094	0.30905	0.7582:0.0:0.2418:0.0	.	.	.	.	X	3751;3689	.	ENSP00000374135:C3751X	C	-	3	2	LRP1B	140832864	1.000000	0.71417	0.997000	0.53966	0.114000	0.19823	2.265000	0.43311	0.364000	0.24374	-0.250000	0.11733	TGT		LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
EPC2	26122	hgsc.bcm.edu	37	2	149519493	149519493	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:149519493A>G	ENST00000258484.6	+	5	843	c.809A>G	c.(808-810)gAg>gGg	p.E270G		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	270					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAAGTTGTGGAGAAAAGGTAA	0.353																																																	0			2											75.0	70.0	72.0					2																	149519493		1834	4079	5913	149235963	SO:0001583	missense	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.809A>G	2.37:g.149519493A>G	ENSP00000258484:p.Glu270Gly	Somatic		Capture	Illumina HiSeq	Phase_I	149235963	B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Missense_Mutation	SNP	ENST00000258484.6	37	CCDS46422.1	.	.	.	.	.	.	.	.	.	.	A	27.3	4.822382	0.90873	.	.	ENSG00000135999	ENST00000258484	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	M	0.91406	3.205	0.80722	D	1	D	0.61697	0.99	D	0.64776	0.929	D	0.88309	0.2955	9	0.87932	D	0	-4.7282	15.772	0.78176	1.0:0.0:0.0:0.0	.	270	Q52LR7	EPC2_HUMAN	G	270	.	ENSP00000258484:E270G	E	+	2	0	EPC2	149235963	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.339000	0.96797	2.133000	0.65898	0.477000	0.44152	GAG		EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630	
NEB	4703	hgsc.bcm.edu	37	2	152512413	152512413	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:152512413T>C	ENST00000172853.10	-	50	6767	c.6620A>G	c.(6619-6621)cAc>cGc	p.H2207R	NEB_ENST00000427231.2_Missense_Mutation_p.H2207R|NEB_ENST00000397345.3_Missense_Mutation_p.H2207R|NEB_ENST00000604864.1_Missense_Mutation_p.H2207R|NEB_ENST00000603639.1_Missense_Mutation_p.H2207R|NEB_ENST00000409198.1_Missense_Mutation_p.H2207R			P20929	NEBU_HUMAN	nebulin	2207					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.H2207P(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTGCTCGGGTGCTGGCGGTA	0.498																																																	1	Substitution - Missense(1)	ovary(1)	2											154.0	150.0	152.0					2																	152512413		1995	4166	6161	152220659	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6620A>G	2.37:g.152512413T>C	ENSP00000172853:p.His2207Arg	Somatic		Capture	Illumina HiSeq	Phase_I	152220659	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	15.81	2.944410	0.53079	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.06528	3.29;3.33;3.33;3.29	5.3	5.3	0.74995	.	0.228496	0.43579	D	0.000544	T	0.09555	0.0235	L	0.45352	1.415	0.80722	D	1	P	0.45715	0.865	P	0.46543	0.52	T	0.37709	-0.9694	10	0.15952	T	0.53	.	15.4117	0.74929	0.0:0.0:0.0:1.0	.	2207	P20929	NEBU_HUMAN	R	2207	ENSP00000386259:H2207R;ENSP00000380505:H2207R;ENSP00000416578:H2207R;ENSP00000172853:H2207R	ENSP00000172853:H2207R	H	-	2	0	NEB	152220659	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.731000	0.62022	2.225000	0.72522	0.460000	0.39030	CAC		NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
GALNT5	11227	hgsc.bcm.edu	37	2	158156138	158156138	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:158156138T>C	ENST00000259056.4	+	6	2561	c.2076T>C	c.(2074-2076)ctT>ctC	p.L692L	RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	692	Catalytic subdomain B.		L -> F (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ACCCTGGCCTTGATGTTTGGG	0.373																																																	0			2											90.0	86.0	87.0					2																	158156138		2203	4300	6503	157864384	SO:0001819	synonymous_variant	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2076T>C	2.37:g.158156138T>C		Somatic		Capture	Illumina HiSeq	Phase_I	157864384	A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	CCDS2203.1																																																																																				GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
XIRP2	129446	hgsc.bcm.edu	37	2	168099854	168099854	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:168099854T>C	ENST00000409195.1	+	9	2041	c.1952T>C	c.(1951-1953)gTc>gCc	p.V651A	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V429A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V651A	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	476					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAGGAGATGTCTGCACAGCT	0.428																																																	0			2											66.0	64.0	65.0					2																	168099854		1896	4130	6026	167808100	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1952T>C	2.37:g.168099854T>C	ENSP00000386840:p.Val651Ala	Somatic		Capture	Illumina HiSeq	Phase_I	167808100	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.505700	0.85282	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.10668	2.88;2.88;2.85	5.93	5.93	0.95920	.	0.122287	0.53938	D	0.000050	T	0.40398	0.1115	M	0.87038	2.855	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.42882	-0.9425	10	0.87932	D	0	-9.3154	16.3798	0.83452	0.0:0.0:0.0:1.0	.	476;476;429	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	A	651;651;429	ENSP00000386840:V651A;ENSP00000295237:V651A;ENSP00000387255:V429A	ENSP00000295237:V651A	V	+	2	0	XIRP2	167808100	1.000000	0.71417	0.941000	0.38009	0.905000	0.53344	7.698000	0.84413	2.271000	0.75665	0.533000	0.62120	GTC		XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
MYO3B	140469	hgsc.bcm.edu	37	2	171242699	171242699	+	Splice_Site	SNP	T	T	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:171242699T>A	ENST00000408978.4	+	13	1434	c.1291T>A	c.(1291-1293)Tgc>Agc	p.C431S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000334231.6_Splice_Site_p.C440S|MYO3B_ENST00000409044.3_Splice_Site_p.C431S	NM_138995.4	NP_620482.3	Q8WXR4	MYO3B_HUMAN	myosin IIIB	431	Myosin motor.				peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium bundle tip (GO:0032426)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|protein serine/threonine kinase activity (GO:0004674)	p.C431S(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTGTGCCAGTGCATTGTCAT	0.433																																																	1	Substitution - Missense(1)	lung(1)	2											107.0	102.0	103.0					2																	171242699		1958	4157	6115	170950945	SO:0001630	splice_region_variant	140469				CCDS42773.1, CCDS46446.1	2q31.1-q31.2	2011-09-27			ENSG00000071909	ENSG00000071909		"""Myosins / Myosin superfamily : Class III"""	15576	protein-coding gene	gene with protein product		610040					Standard	NM_001083615		Approved		uc002ufy.3	Q8WXR4	OTTHUMG00000154002	ENST00000408978.4:c.1291-1T>A	2.37:g.171242699T>A		Somatic		Capture	Illumina HiSeq	Phase_I	170950945	B8ZZR2|Q53QE1|Q53T08|Q8IX64|Q8IX65|Q8IX66|Q8IX67|Q8IX68|Q96N94	Missense_Mutation	SNP	ENST00000408978.4	37	CCDS42773.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.238861	0.79800	.	.	ENSG00000071909	ENST00000409044;ENST00000408978;ENST00000317915;ENST00000484338;ENST00000334231	D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14	5.45	5.45	0.79879	Myosin head, motor domain (3);	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.39397	1.21	0.80722	D	1	P;P;D	0.60575	0.911;0.851;0.988	P;P;D	0.65323	0.756;0.623;0.934	D	0.88729	0.3235	9	.	.	.	.	15.8205	0.78638	0.0:0.0:0.0:1.0	.	431;431;431	Q8WXR4-5;Q8WXR4-4;Q8WXR4	.;.;MYO3B_HUMAN	S	431;431;430;440;440	ENSP00000386497:C431S;ENSP00000386213:C431S;ENSP00000446237:C440S;ENSP00000335100:C440S	.	C	+	1	0	MYO3B	170950945	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.997000	0.88414	2.201000	0.70794	0.533000	0.62120	TGC		MYO3B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333410.1		Missense_Mutation
OLA1	29789	hgsc.bcm.edu	37	2	174945927	174945927	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:174945927A>G	ENST00000409546.1	-	9	1609	c.979T>C	c.(979-981)Tac>Cac	p.Y327H	OLA1_ENST00000344357.5_Missense_Mutation_p.Y149H|OLA1_ENST00000284719.3_Missense_Mutation_p.Y307H|OLA1_ENST00000428402.2_Intron|OLA1_ENST00000392560.2_5'UTR					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GTGAAAAAGTATTCTAGTTGG	0.408																																																	0			2											89.0	79.0	82.0					2																	174945927		2203	4299	6502	174654173	SO:0001583	missense	29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.979T>C	2.37:g.174945927A>G	ENSP00000386350:p.Tyr327His	Somatic		Capture	Illumina HiSeq	Phase_I	174654173		Missense_Mutation	SNP	ENST00000409546.1	37		.	.	.	.	.	.	.	.	.	.	A	9.946	1.218956	0.22373	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000409546	T;T;T	0.17213	2.29;2.29;2.29	5.96	5.96	0.96718	Domain of unknown function DUF933 (1);TGS-like (1);Beta-grasp fold, ferredoxin-type (1);	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	N	0.25060	0.705	0.80722	D	1	D;B;D	0.89917	1.0;0.219;1.0	D;B;D	0.97110	1.0;0.122;1.0	T	0.05451	-1.0884	10	0.59425	D	0.04	-5.6086	16.4277	0.83824	1.0:0.0:0.0:0.0	.	307;149;307	D7EHM2;Q9NTK5-2;Q9NTK5	.;.;OLA1_HUMAN	H	307;149;327	ENSP00000284719:Y307H;ENSP00000340167:Y149H;ENSP00000386350:Y327H	ENSP00000284719:Y307H	Y	-	1	0	OLA1	174654173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.109000	0.94291	2.279000	0.76181	0.533000	0.62120	TAC		OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000333877.1	NM_013341	
NFE2L2	4780	hgsc.bcm.edu	37	2	178098832	178098832	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:178098832G>A	ENST00000397062.3	-	2	767	c.213C>T	c.(211-213)ttC>ttT	p.F71F	NFE2L2_ENST00000423513.1_Silent_p.F55F|NFE2L2_ENST00000446151.2_Silent_p.F55F|NFE2L2_ENST00000464747.1_Silent_p.F55F|NFE2L2_ENST00000397063.4_Silent_p.F55F	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	71					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			GTAACTGAGCGAAAAAGGCTT	0.448			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0			2											159.0	155.0	157.0					2																	178098832		1887	4102	5989	177807078	SO:0001819	synonymous_variant	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.213C>T	2.37:g.178098832G>A		Somatic		Capture	Illumina HiSeq	Phase_I	177807078	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Silent	SNP	ENST00000397062.3	37	CCDS42782.1																																																																																				NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164	
TTN	7273	hgsc.bcm.edu	37	2	179434540	179434540	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:179434540T>C	ENST00000591111.1	-	276	71620	c.71396A>G	c.(71395-71397)tAc>tGc	p.Y23799C	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y25440C|TTN_ENST00000460472.2_Missense_Mutation_p.Y16375C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y16500C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y22872C|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y16567C|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23799	Fibronectin type-III 73. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAACAATGTATCCTTGAAT	0.393																																																	0			2											143.0	131.0	135.0					2																	179434540		1880	4128	6008	179142786	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71396A>G	2.37:g.179434540T>C	ENSP00000465570:p.Tyr23799Cys	Somatic		Capture	Illumina HiSeq	Phase_I	179142786	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.25	1.880344	0.33162	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89	5.92	5.92	0.95590	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.92163	0.7515	H	0.98786	4.33	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.95219	0.8332	9	0.87932	D	0	.	16.3526	0.83220	0.0:0.0:0.0:1.0	.	16375;16500;16567;23799	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	22872;16375;16567;16500;16373	ENSP00000343764:Y22872C;ENSP00000434586:Y16375C;ENSP00000340554:Y16567C;ENSP00000352154:Y16500C	ENSP00000340554:Y16567C	Y	-	2	0	TTN	179142786	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.255000	0.74692	0.533000	0.62120	TAC		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179486328	179486328	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:179486328T>C	ENST00000591111.1	-	195	40524	c.40300A>G	c.(40300-40302)Aga>Gga	p.R13434G	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15075G|TTN_ENST00000460472.2_Missense_Mutation_p.R6010G|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6135G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R12507G|TTN_ENST00000342175.6_Missense_Mutation_p.R6202G|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13434	Ig-like 90.		R -> K (in a breast pleomorphic lobular carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTCATATCTTCCTGTTTCA	0.448																																																	0			2											143.0	138.0	139.0					2																	179486328		1966	4153	6119	179194573	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40300A>G	2.37:g.179486328T>C	ENSP00000465570:p.Arg13434Gly	Somatic		Capture	Illumina HiSeq	Phase_I	179194573	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	12.70	2.016736	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.80480	-1.38;-1.38;-1.38;-1.38	6.17	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.86912	0.6047	M	0.76938	2.355	0.40106	D	0.976425	P;P;P;P	0.50819	0.939;0.939;0.939;0.939	P;P;P;P	0.56278	0.739;0.739;0.739;0.795	D	0.89065	0.3465	9	0.87932	D	0	.	13.2634	0.60120	0.0:0.0:0.132:0.868	.	6010;6135;6202;13434	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	12507;6010;6202;6135;6010	ENSP00000343764:R12507G;ENSP00000434586:R6010G;ENSP00000340554:R6202G;ENSP00000352154:R6135G	ENSP00000340554:R6202G	R	-	1	2	TTN	179194573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.449000	0.52950	2.371000	0.80710	0.533000	0.62120	AGA		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAJC10	54431	hgsc.bcm.edu	37	2	183627443	183627443	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:183627443A>G	ENST00000264065.7	+	22	2595	c.2180A>G	c.(2179-2181)gAc>gGc	p.D727G		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	727	Thioredoxin 4. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGAAAAGTAGACTGTCAGGCT	0.373																																					Pancreas(56;860 1183 25669 35822 48585)												0			2											93.0	92.0	92.0					2																	183627443		2203	4300	6503	183335688	SO:0001583	missense	54431				CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.2180A>G	2.37:g.183627443A>G	ENSP00000264065:p.Asp727Gly	Somatic		Capture	Illumina HiSeq	Phase_I	183335688	Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Missense_Mutation	SNP	ENST00000264065.7	37	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.038283	0.93630	.	.	ENSG00000077232	ENST00000264065;ENST00000392392	T	0.08282	3.11	5.94	5.94	0.96194	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.100338	0.64402	D	0.000003	T	0.34308	0.0893	M	0.93638	3.44	0.80722	D	1	P;P	0.49090	0.899;0.919	P;P	0.54664	0.758;0.674	T	0.44483	-0.9325	10	0.72032	D	0.01	.	16.3951	0.83601	1.0:0.0:0.0:0.0	.	681;727	Q8IXB1-2;Q8IXB1	.;DJC10_HUMAN	G	727;681	ENSP00000264065:D727G	ENSP00000264065:D727G	D	+	2	0	DNAJC10	183335688	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.117000	0.94347	2.272000	0.75746	0.460000	0.39030	GAC		DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
ERBB4	2066	hgsc.bcm.edu	37	2	212615366	212615366	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:212615366G>C	ENST00000342788.4	-	5	930	c.620C>G	c.(619-621)aCt>aGt	p.T207S	ERBB4_ENST00000436443.1_Missense_Mutation_p.T207S|ERBB4_ENST00000402597.1_Missense_Mutation_p.T207S|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	207	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ACACTTACAAGTCTGGCAATG	0.448										TSP Lung(8;0.080)																																							0			2											137.0	111.0	120.0					2																	212615366		2203	4300	6503	212323611	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.620C>G	2.37:g.212615366G>C	ENSP00000342235:p.Thr207Ser	Somatic		Capture	Illumina HiSeq	Phase_I	212323611	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.72|11.72	1.722861|1.722861	0.30503|0.30503	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|D;D;D	.|0.82167	.|-1.58;-1.58;-1.58	5.58|5.58	3.6|3.6	0.41247|0.41247	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.215542	.|0.53938	.|N	.|0.000042	T|T	0.66829|0.66829	0.2829|0.2829	N|N	0.10685|0.10685	0.025|0.025	0.22926|0.22926	N|N	0.998557|0.998557	.|B;B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.001;0.001	.|B;B;B;B;B	.|0.15484	.|0.001;0.013;0.001;0.001;0.001	T|T	0.43458|0.43458	-0.9390|-0.9390	5|10	.|0.15066	.|T	.|0.55	.|.	16.5715|16.5715	0.84613|0.84613	0.0:0.2982:0.7018:0.0|0.0:0.2982:0.7018:0.0	.|.	.|207;207;66;207;207	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	V|S	207|207	.|ENSP00000342235:T207S;ENSP00000403204:T207S;ENSP00000385565:T207S	.|ENSP00000342235:T207S	L|T	-|-	1|2	0|0	ERBB4|ERBB4	212323611|212323611	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.989000|0.989000	0.77384|0.77384	2.930000|2.930000	0.48924|0.48924	2.625000|2.625000	0.88918|0.88918	0.650000|0.650000	0.86243|0.86243	CTT|ACT		ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
TMEM198	130612	hgsc.bcm.edu	37	2	220413897	220413897	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:220413897C>T	ENST00000344458.2	+	5	1351	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.R256C			Q66K66	TM198_HUMAN	transmembrane protein 198	256	Arg-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCAGCGCCGACGCGTGCAACT	0.622																																																	0			2											87.0	94.0	91.0					2																	220413897		2203	4300	6503	220122141	SO:0001583	missense	130612			BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.766C>T	2.37:g.220413897C>T	ENSP00000343507:p.Arg256Cys	Somatic		Capture	Illumina HiSeq	Phase_I	220122141		Missense_Mutation	SNP	ENST00000344458.2	37	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.199399	0.79015	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	4.68	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.68559	0.3014	L	0.47190	1.495	0.53688	D	0.999979	D	0.89917	1.0	D	0.78314	0.991	T	0.71290	-0.4637	9	0.66056	D	0.02	-18.2189	14.6232	0.68602	0.1459:0.8541:0.0:0.0	.	256	Q66K66	TM198_HUMAN	C	256	.	ENSP00000343507:R256C	R	+	1	0	TMEM198	220122141	0.993000	0.37304	0.133000	0.22050	0.870000	0.49936	3.147000	0.50639	2.597000	0.87782	0.561000	0.74099	CGC		TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209	
ECEL1	9427	hgsc.bcm.edu	37	2	233348873	233348873	+	Silent	SNP	C	C	A	rs374449970		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:233348873C>A	ENST00000304546.1	-	7	1455	c.1245G>T	c.(1243-1245)ccG>ccT	p.P415P	ECEL1_ENST00000409941.1_Silent_p.P415P	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	415					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CACGGAATGGCGGGGACAGGT	0.647																																																	0			2											44.0	44.0	44.0					2																	233348873		2203	4300	6503	233057117	SO:0001819	synonymous_variant	9427			Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1245G>T	2.37:g.233348873C>A		Somatic		Capture	Illumina HiSeq	Phase_I	233057117	Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Silent	SNP	ENST00000304546.1	37	CCDS2493.1																																																																																				ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826	
AGAP1	116987	hgsc.bcm.edu	37	2	236817466	236817466	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:236817466A>G	ENST00000304032.8	+	11	1820	c.1240A>G	c.(1240-1242)Acg>Gcg	p.T414A	AGAP1_ENST00000409538.1_Missense_Mutation_p.T679A|AGAP1_ENST00000428334.2_Missense_Mutation_p.T253A|AGAP1_ENST00000336665.5_Missense_Mutation_p.T414A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	414	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACCCCGAGCCACGTCAGCCTG	0.483																																																	0			2											89.0	79.0	83.0					2																	236817466		2203	4300	6503	236482205	SO:0001583	missense	116987			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.1240A>G	2.37:g.236817466A>G	ENSP00000307634:p.Thr414Ala	Somatic		Capture	Illumina HiSeq	Phase_I	236482205	B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.32|12.32	1.902607|1.902607	0.33628|0.33628	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000448025|ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334	.|T;T;T;T	.|0.79141	.|-1.24;-1.24;-1.24;-1.24	4.66|4.66	4.66|4.66	0.58398|0.58398	.|Pleckstrin homology domain (3);	.|0.159471	.|0.42682	.|D	.|0.000668	D|D	0.83533|0.83533	0.5275|0.5275	L|L	0.50333|0.50333	1.59|1.59	0.37075|0.37075	D|D	0.898726|0.898726	.|B;D	.|0.62365	.|0.015;0.991	.|B;D	.|0.74023	.|0.023;0.982	D|D	0.84098|0.84098	0.0394|0.0394	5|10	.|0.29301	.|T	.|0.29	.|.	14.8075|14.8075	0.69968|0.69968	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|414;414	.|Q9UPQ3-2;Q9UPQ3	.|.;AGAP1_HUMAN	R|A	47|414;414;679;253	.|ENSP00000307634:T414A;ENSP00000338378:T414A;ENSP00000386897:T679A;ENSP00000411824:T253A	.|ENSP00000307634:T414A	H|T	+|+	2|1	0|0	AGAP1|AGAP1	236482205|236482205	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.889000|0.889000	0.51656|0.51656	4.759000|4.759000	0.62227|0.62227	2.044000|2.044000	0.60594|0.60594	0.533000|0.533000	0.62120|0.62120	CAC|ACG		AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	NM_014914	
RFX3	5991	hgsc.bcm.edu	37	9	3330483	3330483	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:3330483T>C	ENST00000382004.3	-	5	561	c.250A>G	c.(250-252)Atg>Gtg	p.M84V	RFX3_ENST00000358730.2_Missense_Mutation_p.M84V|RFX3_ENST00000302303.1_Missense_Mutation_p.M84V	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	84					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TGGCTGTACATCTGTGTCTCT	0.403																																																	0			9											104.0	99.0	101.0					9																	3330483		2203	4300	6503	3320483	SO:0001583	missense	5991			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.250A>G	9.37:g.3330483T>C	ENSP00000371434:p.Met84Val	Somatic		Capture	Illumina HiSeq	Phase_I	3320483	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	T	14.78	2.637674	0.47049	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373;ENST00000451859;ENST00000442560;ENST00000420720;ENST00000381985;ENST00000449190	T;T;T;T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58	5.5	5.5	0.81552	RFX1 transcription activation region (1);	0.043366	0.85682	D	0.000000	T	0.19604	0.0471	N	0.12182	0.205	0.40407	D	0.979714	B;B;B;B	0.21753	0.06;0.055;0.05;0.056	B;B;B;B	0.25759	0.029;0.041;0.022;0.063	T	0.10291	-1.0636	10	0.17832	T	0.49	-20.8715	15.5703	0.76330	0.0:0.0:0.0:1.0	.	84;84;84;84	B1ANP5;P48380-3;P48380-2;P48380	.;.;.;RFX3_HUMAN	V	84;84;84;84;84;84;45;45;84;84	ENSP00000371434:M84V;ENSP00000351574:M84V;ENSP00000303847:M84V;ENSP00000405664:M84V;ENSP00000411756:M84V;ENSP00000410988:M45V;ENSP00000416189:M45V;ENSP00000399352:M84V	ENSP00000303847:M84V	M	-	1	0	RFX3	3320483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.751000	0.55165	2.209000	0.71365	0.460000	0.39030	ATG		RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919	
PTPRD	5789	hgsc.bcm.edu	37	9	8484163	8484163	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:8484163C>T	ENST00000381196.4	-	27	3912	c.3369G>A	c.(3367-3369)atG>atA	p.M1123I	PTPRD_ENST00000358503.5_Missense_Mutation_p.M1101I|PTPRD_ENST00000355233.5_Missense_Mutation_p.M712I|PTPRD_ENST00000486161.1_Missense_Mutation_p.M712I|PTPRD_ENST00000397617.3_Missense_Mutation_p.M702I|PTPRD_ENST00000540109.1_Missense_Mutation_p.M1123I|PTPRD_ENST00000356435.5_Missense_Mutation_p.M1123I|PTPRD_ENST00000397606.3_Missense_Mutation_p.M702I|PTPRD_ENST00000471274.1_5'Flank|PTPRD_ENST00000397611.3_Missense_Mutation_p.M709I|PTPRD_ENST00000537002.1_Missense_Mutation_p.M709I|PTPRD_ENST00000360074.4_Missense_Mutation_p.M1110I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1123					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCACAGTAATCATGCCATCCA	0.453										TSP Lung(15;0.13)																																							0			9											161.0	142.0	148.0					9																	8484163		2203	4300	6503	8474163	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3369G>A	9.37:g.8484163C>T	ENSP00000370593:p.Met1123Ile	Somatic		Capture	Illumina HiSeq	Phase_I	8474163	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.304319	0.60305	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.91	5.91	0.95273	.	0.077355	0.85682	D	0.000000	T	0.44582	0.1300	L	0.27053	0.805	0.80722	D	1	B;B;P;B;B;B;B;B;B	0.35872	0.001;0.007;0.525;0.003;0.001;0.003;0.0;0.126;0.019	B;B;B;B;B;B;B;B;B	0.42214	0.008;0.001;0.38;0.003;0.022;0.013;0.001;0.08;0.004	T	0.15464	-1.0436	9	.	.	.	.	19.9087	0.97016	0.0:1.0:0.0:0.0	.	702;707;712;712;709;709;1110;1123;1123	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	I	1123;1123;1110;1101;712;702;709;709;1123;712;702	ENSP00000370593:M1123I;ENSP00000348812:M1123I;ENSP00000353187:M1110I;ENSP00000351293:M1101I;ENSP00000347373:M712I;ENSP00000380741:M702I;ENSP00000380735:M709I;ENSP00000440515:M709I;ENSP00000438164:M1123I;ENSP00000417093:M712I;ENSP00000380731:M702I	.	M	-	3	0	PTPRD	8474163	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.896000	0.63222	2.802000	0.96397	0.655000	0.94253	ATG		PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
IFNA5	3442	hgsc.bcm.edu	37	9	21304926	21304926	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:21304926A>G	ENST00000259555.4	-	1	386	c.330T>C	c.(328-330)acT>acC	p.T110T		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	110					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GGTAAAGTTCAGTGTAGAATT	0.468																																																	0			9											119.0	116.0	117.0					9																	21304926		2203	4300	6503	21294926	SO:0001819	synonymous_variant	3442				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.330T>C	9.37:g.21304926A>G		Somatic		Capture	Illumina HiSeq	Phase_I	21294926	Q52LX3	Silent	SNP	ENST00000259555.4	37	CCDS6502.1																																																																																				IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1	NM_002169	
TAF1L	138474	hgsc.bcm.edu	37	9	32631469	32631469	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:32631469G>A	ENST00000242310.4	-	1	4198	c.4109C>T	c.(4108-4110)cCt>cTt	p.P1370L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1370					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTCTTTGGAGGAAGCTGCTG	0.458																																																	0			9											206.0	205.0	205.0					9																	32631469		2203	4300	6503	32621469	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.4109C>T	9.37:g.32631469G>A	ENSP00000418379:p.Pro1370Leu	Somatic		Capture	Illumina HiSeq	Phase_I	32621469	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741215	0.69304	.	.	ENSG00000122728	ENST00000242310	T	0.08193	3.12	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.06781	0.0173	L	0.40543	1.245	0.80722	D	1	B	0.25521	0.128	B	0.26770	0.073	T	0.24657	-1.0154	10	0.56958	D	0.05	.	6.6915	0.23174	2.0E-4:0.0:0.9998:0.0	.	1370	Q8IZX4	TAF1L_HUMAN	L	1370	ENSP00000418379:P1370L	ENSP00000418379:P1370L	P	-	2	0	TAF1L	32621469	1.000000	0.71417	0.977000	0.42913	0.862000	0.49288	6.138000	0.71717	0.507000	0.28148	0.195000	0.17529	CCT		TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	hgsc.bcm.edu	37	9	32635569	32635569	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:32635569G>A	ENST00000242310.4	-	1	98	c.9C>T	c.(7-9)ccC>ccT	p.P3P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	3					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.P3P(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AATCGCAGCCGGGTCGCATAA	0.552																																																	1	Substitution - coding silent(1)	large_intestine(1)	9											47.0	45.0	46.0					9																	32635569		2203	4300	6503	32625569	SO:0001819	synonymous_variant	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.9C>T	9.37:g.32635569G>A		Somatic		Capture	Illumina HiSeq	Phase_I	32625569	Q0VG57	Silent	SNP	ENST00000242310.4	37	CCDS35003.1																																																																																				TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
FAM221B	392307	hgsc.bcm.edu	37	9	35825636	35825636	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:35825636C>T	ENST00000423537.2	-	2	792	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	F221B_HUMAN	family with sequence similarity 221, member B	175										endometrium(2)|kidney(1)|lung(4)	7						TCTCCTGCTTCTTCCTCCTGC	0.512											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			9											245.0	238.0	240.0					9																	35825636		2026	4185	6211	35815636	SO:0001583	missense	392307			BX648702	CCDS43799.1, CCDS43799.2	9p13.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000204930	ENSG00000204930			30762	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 128"""	C9orf128			Standard	NM_001012446		Approved		uc010mlc.2	A6H8Z2	OTTHUMG00000019880	ENST00000423537.2:c.523G>A	9.37:g.35825636C>T	ENSP00000415299:p.Glu175Lys	Somatic	858	Capture	Illumina HiSeq	Phase_I	35815636	Q5TCW2	Missense_Mutation	SNP	ENST00000423537.2	37	CCDS43799.2	.	.	.	.	.	.	.	.	.	.	c	12.92	2.082007	0.36758	.	.	ENSG00000204930	ENST00000423537;ENST00000377984	T;T	0.34275	1.7;1.37	4.03	2.14	0.27477	.	0.811501	0.10663	N	0.648532	T	0.22859	0.0552	L	0.27053	0.805	0.23440	N	0.997679	B	0.19331	0.035	B	0.19391	0.025	T	0.29518	-1.0009	10	0.19147	T	0.46	-1.6587	6.7773	0.23626	0.0:0.768:0.0:0.232	.	175	A6H8Z2	CI128_HUMAN	K	175	ENSP00000415299:E175K;ENSP00000367222:E175K	ENSP00000367222:E175K	E	-	1	0	C9orf128	35815636	0.633000	0.27181	0.085000	0.20634	0.012000	0.07955	0.497000	0.22514	0.433000	0.26313	0.586000	0.80456	GAA		FAM221B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355861.1	NM_001012446	
ZNF658	26149	hgsc.bcm.edu	37	9	40773969	40773969	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:40773969C>A	ENST00000602553.1	-	5	1600	c.1306G>T	c.(1306-1308)Gga>Tga	p.G436*	ZNF658_ENST00000441795.1_Nonsense_Mutation_p.G434*|ZNF658_ENST00000377626.3_Nonsense_Mutation_p.G436*			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G436R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGTTTGAATCCCACATAAGTT	0.383																																																	1	Substitution - Missense(1)	ovary(1)	9											45.0	46.0	46.0					9																	40773969		2195	4278	6473	40763969	SO:0001587	stop_gained	26149			AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.1306G>T	9.37:g.40773969C>A	ENSP00000473484:p.Gly436*	Somatic		Capture	Illumina HiSeq	Phase_I	40763969	Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Nonsense_Mutation	SNP	ENST00000602553.1	37	CCDS35023.1	.	.	.	.	.	.	.	.	.	.	c	38	6.706907	0.97776	.	.	ENSG00000196409	ENST00000441795;ENST00000377626	.	.	.	1.96	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	6.5707	0.22537	0.0:0.8355:0.0:0.1645	.	.	.	.	X	434;436	.	ENSP00000366853:G436X	G	-	1	0	ZNF658	40763969	0.208000	0.23494	0.000000	0.03702	0.832000	0.47134	2.829000	0.48128	0.411000	0.25702	0.384000	0.25694	GGA		ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	
TRPM3	80036	hgsc.bcm.edu	37	9	73399068	73399068	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:73399068C>T	ENST00000377111.2	-	7	1344	c.1101G>A	c.(1099-1101)cgG>cgA	p.R367R	TRPM3_ENST00000361823.5_Silent_p.R214R|TRPM3_ENST00000357533.2_Silent_p.R369R|TRPM3_ENST00000396285.1_Silent_p.R214R|TRPM3_ENST00000408909.2_Silent_p.R214R|TRPM3_ENST00000423814.3_Silent_p.R394R|TRPM3_ENST00000396283.1_Silent_p.R239R|TRPM3_ENST00000377105.1_Silent_p.R214R|TRPM3_ENST00000377106.1_Silent_p.R239R|TRPM3_ENST00000360823.2_Silent_p.R239R|TRPM3_ENST00000396280.5_Silent_p.R214R|TRPM3_ENST00000377101.1_Silent_p.R214R|TRPM3_ENST00000358082.3_Silent_p.R239R|TRPM3_ENST00000377110.3_Silent_p.R367R|TRPM3_ENST00000396292.4_Silent_p.R239R	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	392					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TGTCCGATGCCCGTCCACTCC	0.527																																																	0			9											115.0	99.0	105.0					9																	73399068		2203	4300	6503	72588888	SO:0001819	synonymous_variant	80036			AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.1101G>A	9.37:g.73399068C>T		Somatic		Capture	Illumina HiSeq	Phase_I	72588888	A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Silent	SNP	ENST00000377111.2	37		.	.	.	.	.	.	.	.	.	.	C	10.13	1.265839	0.23136	.	.	ENSG00000083067	ENST00000396280	.	.	.	5.91	2.11	0.27256	.	.	.	.	.	T	0.58337	0.2115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50524	-0.8818	4	.	.	.	-20.8719	9.684	0.40087	0.0:0.6059:0.0:0.3941	.	.	.	.	S	214	.	.	G	-	1	0	TRPM3	72588888	0.885000	0.30320	0.999000	0.59377	0.937000	0.57800	-0.051000	0.11885	0.135000	0.18707	-0.150000	0.13652	GGC		TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945	
PRUNE2	158471	hgsc.bcm.edu	37	9	79320992	79320992	+	Silent	SNP	G	G	A	rs372544904		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:79320992G>A	ENST00000376718.3	-	8	6321	c.6198C>T	c.(6196-6198)gcC>gcT	p.A2066A	PRUNE2_ENST00000428286.1_Silent_p.A1707A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2066					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGTCAGGCGCGGCAGAGGCCA	0.512																																																	0			9						G		1,3135		0,1,1567	132.0	125.0	127.0		6198	-12.1	0.0	9		127	0,7164		0,0,3582	no	coding-synonymous	PRUNE2	NM_015225.2		0,1,5149	AA,AG,GG		0.0,0.0319,0.0097		2066/3089	79320992	1,10299	1568	3582	5150	78510812	SO:0001819	synonymous_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6198C>T	9.37:g.79320992G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78510812	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.372634	0.01214	3.19E-4	0.0	ENSG00000106772	ENST00000426088	.	.	.	6.03	-12.1	0.00011	.	.	.	.	.	T	0.29882	0.0747	.	.	.	0.38911	D	0.95754	.	.	.	.	.	.	T	0.38112	-0.9676	4	.	.	.	-13.4672	1.0634	0.01605	0.23:0.2987:0.2582:0.2132	.	.	.	.	C	1388	.	.	R	-	1	0	PRUNE2	78510812	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-1.307000	0.02733	-2.817000	0.00345	-1.740000	0.00687	CGC		PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
PRUNE2	158471	hgsc.bcm.edu	37	9	79461456	79461456	+	Silent	SNP	G	G	A	rs200722902		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:79461456G>A	ENST00000376718.3	-	4	606	c.483C>T	c.(481-483)acC>acT	p.T161T	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.T161T	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	161					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAGTTGCTCGGTGATGAGCT	0.498																																																	0			9											80.0	78.0	78.0					9																	79461456		2203	4300	6503	78651276	SO:0001819	synonymous_variant	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.483C>T	9.37:g.79461456G>A		Somatic		Capture	Illumina HiSeq	Phase_I	78651276	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	37	CCDS47982.1																																																																																				PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
PTCH1	5727	hgsc.bcm.edu	37	9	98231361	98231361	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:98231361G>T	ENST00000331920.6	-	14	2221	c.1922C>A	c.(1921-1923)cCc>cAc	p.P641H	PTCH1_ENST00000375274.2_Missense_Mutation_p.P640H|PTCH1_ENST00000429896.2_Missense_Mutation_p.P490H|PTCH1_ENST00000430669.2_Missense_Mutation_p.P575H|PTCH1_ENST00000437951.1_Missense_Mutation_p.P575H|PTCH1_ENST00000421141.1_Missense_Mutation_p.P490H|PTCH1_ENST00000418258.1_Missense_Mutation_p.P490H	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	641					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.P641L(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGGAGGTGGGGGGCTGTAGCG	0.582																																																	1	Substitution - Missense(1)	skin(1)	9											126.0	113.0	118.0					9																	98231361		2203	4300	6503	97271182	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1922C>A	9.37:g.98231361G>T	ENSP00000332353:p.Pro641His	Somatic		Capture	Illumina HiSeq	Phase_I	97271182	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643077	0.67244	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274;ENST00000375271	D;D;D;D;D;D;D;D	0.90444	-2.66;-2.65;-2.64;-2.64;-2.65;-2.64;-2.67;-2.64	4.98	4.98	0.66077	.	0.051475	0.85682	D	0.000000	D	0.94318	0.8174	M	0.73372	2.23	0.80722	D	1	B;B;D;D	0.67145	0.32;0.32;0.995;0.996	B;B;P;P	0.61592	0.192;0.206;0.826;0.891	D	0.94753	0.7929	10	0.72032	D	0.01	-25.8266	18.455	0.90717	0.0:0.0:1.0:0.0	.	490;575;640;641	Q13635-4;Q13635-3;Q13635-2;Q13635	.;.;.;PTC1_HUMAN	H	641;575;490;490;77;575;490;640;306	ENSP00000332353:P641H;ENSP00000389744:P575H;ENSP00000399981:P490H;ENSP00000396135:P490H;ENSP00000410287:P575H;ENSP00000414823:P490H;ENSP00000364423:P640H;ENSP00000364420:P306H	ENSP00000332353:P641H	P	-	2	0	PTCH1	97271182	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.096000	0.94182	2.586000	0.87340	0.557000	0.71058	CCC		PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
PRPF4	9128	hgsc.bcm.edu	37	9	116044950	116044950	+	Silent	SNP	C	C	T	rs139273131	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:116044950C>T	ENST00000374198.4	+	4	522	c.420C>T	c.(418-420)gtC>gtT	p.V140V	PRPF4_ENST00000374199.4_Silent_p.V139V|PRPF4_ENST00000488937.1_3'UTR	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	140					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						TCTCAGTTGTCGGTACTGATG	0.303																																																	0			9											80.0	76.0	77.0					9																	116044950		2203	4300	6503	115084771	SO:0001819	synonymous_variant	9128			AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.420C>T	9.37:g.116044950C>T		Somatic		Capture	Illumina HiSeq	Phase_I	115084771	O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Silent	SNP	ENST00000374198.4	37	CCDS6791.1																																																																																				PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697	
SPTAN1	6709	hgsc.bcm.edu	37	9	131389742	131389742	+	Silent	SNP	C	C	T	rs372825476		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:131389742C>T	ENST00000372731.4	+	49	6749	c.6639C>T	c.(6637-6639)caC>caT	p.H2213H	SPTAN1_ENST00000372739.3_Silent_p.H2218H|SPTAN1_ENST00000358161.5_Silent_p.H2218H	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2213					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TTGCCCAGCACGCCAACGCCT	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.0				NSCLC(120;833 1744 2558 35612 37579)												0			9						C	,,	0,4114		0,0,2057	47.0	28.0	34.0		6654,6579,6639	-3.9	1.0	9		34	1,7971		0,1,3985	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,1,6042	TT,TC,CC		0.0125,0.0,0.0083	,,	2218/2478,2193/2453,2213/2473	131389742	1,12085	2057	3986	6043	130429563	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6639C>T	9.37:g.131389742C>T		Somatic		Capture	Illumina HiSeq	Phase_I	130429563	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	CCDS6905.1																																																																																				SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
NUP214	8021	hgsc.bcm.edu	37	9	134072982	134072982	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr9:134072982C>T	ENST00000359428.5	+	29	4245	c.4101C>T	c.(4099-4101)ggC>ggT	p.G1367G	NUP214_ENST00000451030.1_Silent_p.G1368G|NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Silent_p.G193G|NUP214_ENST00000411637.2_Silent_p.G1357G			P35658	NU214_HUMAN	nucleoporin 214kDa	1367	11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGACGTCAGGCGTGCCCTCAG	0.542			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0			9											115.0	116.0	116.0					9																	134072982		2203	4300	6503	133062803	SO:0001819	synonymous_variant	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4101C>T	9.37:g.134072982C>T		Somatic		Capture	Illumina HiSeq	Phase_I	133062803	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	37	CCDS6940.1																																																																																				NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
ATP12A	479	hgsc.bcm.edu	37	13	25264509	25264509	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:25264509A>G	ENST00000381946.3	+	6	747	c.580A>G	c.(580-582)Acc>Gcc	p.T194A	ATP12A_ENST00000218548.6_Missense_Mutation_p.T194A			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	194					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		CGAGAAGAAGACCATCCCTTC	0.567																																					Pancreas(156;1582 1935 18898 22665 26498)												0			13											119.0	113.0	115.0					13																	25264509		2203	4300	6503	24162509	SO:0001583	missense	479			L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.580A>G	13.37:g.25264509A>G	ENSP00000371372:p.Thr194Ala	Somatic		Capture	Illumina HiSeq	Phase_I	24162509	Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	A	3.748	-0.052116	0.07362	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.91686	-2.89;-2.89	4.74	-6.64	0.01801	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.697610	0.03175	N	0.171294	D	0.92734	0.7690	M	0.87381	2.88	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.12837	0.008;0.008	T	0.76913	-0.2783	10	0.27082	T	0.32	.	18.5701	0.91132	0.1929:0.0:0.8071:0.0	.	194;194	P54707-2;P54707	.;AT12A_HUMAN	A	194	ENSP00000218548:T194A;ENSP00000371372:T194A	ENSP00000218548:T194A	T	+	1	0	ATP12A	24162509	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.052000	0.11865	-1.330000	0.02255	-0.263000	0.10527	ACC		ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676	
FLT3	2322	hgsc.bcm.edu	37	13	28592653	28592653	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:28592653C>T	ENST00000241453.7	-	20	2573	c.2492G>A	c.(2491-2493)gGa>gAa	p.G831E	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000380982.4_Missense_Mutation_p.G831E	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	831	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.G831E(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCGAGCCAATCCAAAGTCACA	0.453			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	3	Substitution - Missense(3)	haematopoietic_and_lymphoid_tissue(3)	13											192.0	144.0	160.0					13																	28592653		2203	4300	6503	27490653	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2492G>A	13.37:g.28592653C>T	ENSP00000241453:p.Gly831Glu	Somatic		Capture	Illumina HiSeq	Phase_I	27490653	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123677	0.94429	.	.	ENSG00000122025	ENST00000241453;ENST00000380982	D;D	0.99264	-5.65;-5.65	5.84	5.84	0.93424	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.99576	0.9847	M	0.91768	3.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98406	1.0570	10	0.87932	D	0	.	20.221	0.98325	0.0:1.0:0.0:0.0	.	831	P36888	FLT3_HUMAN	E	831	ENSP00000241453:G831E;ENSP00000370369:G831E	ENSP00000241453:G831E	G	-	2	0	FLT3	27490653	1.000000	0.71417	0.710000	0.30468	0.926000	0.56050	7.815000	0.86186	2.792000	0.96026	0.556000	0.70494	GGA		FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
N4BP2L1	90634	hgsc.bcm.edu	37	13	32972720	32972720	+	IGR	SNP	C	C	T	rs80358388|rs397507567		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:32972720C>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.T3357I|BRCA2_ENST00000544455.1_Missense_Mutation_p.T3357I	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1									p.T3357R(1)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCTGGTTCAACAGGAGAAAAA	0.363																																																	1	Substitution - Missense(1)	breast(1)	13											64.0	68.0	67.0					13																	32972720		2203	4300	6503	31870720	SO:0001628	intergenic_variant	675			U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972720C>T		Somatic		Capture	Illumina HiSeq	Phase_I	31870720	A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	C	6.392	0.440417	0.12104	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00695	5.83;5.83	5.45	2.18	0.27775	.	0.673899	0.14154	N	0.337829	T	0.00384	0.0012	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44787	-0.9305	10	0.22706	T	0.39	.	2.418	0.04441	0.142:0.5312:0.1378:0.189	.	3357	P51587	BRCA2_HUMAN	I	3357	ENSP00000369497:T3357I;ENSP00000439902:T3357I	ENSP00000369497:T3357I	T	+	2	0	BRCA2	31870720	0.260000	0.24053	0.003000	0.11579	0.762000	0.43233	0.608000	0.24223	0.086000	0.17137	-0.444000	0.05651	ACA		N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818	
HTR2A	3356	hgsc.bcm.edu	37	13	47466581	47466582	+	Missense_Mutation	DNP	AA	AA	GG			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:47466581_47466582AA>GG	ENST00000378688.4	-	2	687_688	c.556_557TT>CC	c.(556-558)TTc>CCc	p.F186P	HTR2A_ENST00000542664.1_Missense_Mutation_p.F186P|HTR2A_ENST00000543956.1_Missense_Mutation_p.F102P			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	186					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.F186L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCTGGAGTTGAAGCGGCTGTGG	0.495																																																	1	Substitution - Missense(1)	ovary(1)	13																																								46364582|46364583	SO:0001583	missense	3356			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.556_557delinsGG	13.37:g.47466581_47466582delinsGG	ENSP00000367959:p.Phe186Pro	Somatic		Capture	Illumina HiSeq	Phase_I	46364582|46364583	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	CCDS9405.1																																																																																				HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	NM_000621	
RB1	5925	hgsc.bcm.edu	37	13	48941659	48941659	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:48941659A>G	ENST00000267163.4	+	10	1107	c.969A>G	c.(967-969)gaA>gaG	p.E323E		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	323					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GATACGAAGAAATTTATCTTA	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(7)	bone(11)|breast(5)|adrenal_gland(1)|eye(1)|soft_tissue(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	13											57.0	69.0	65.0					13																	48941659		2196	4281	6477	47839660	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.969A>G	13.37:g.48941659A>G		Somatic		Capture	Illumina HiSeq	Phase_I	47839660	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
MYCBP2	23077	hgsc.bcm.edu	37	13	77740564	77740564	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:77740564T>C	ENST00000544440.2	-	41	6143	c.6126A>G	c.(6124-6126)ggA>ggG	p.G2042G	MYCBP2_ENST00000407578.2_Silent_p.G2080G|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.G2042G					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TCAATTTTGGTCCATATCCTG	0.403																																																	0			13											103.0	100.0	101.0					13																	77740564		2203	4300	6503	76638565	SO:0001819	synonymous_variant	23077			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6126A>G	13.37:g.77740564T>C		Somatic		Capture	Illumina HiSeq	Phase_I	76638565		Silent	SNP	ENST00000544440.2	37																																																																																					MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
SLITRK6	84189	hgsc.bcm.edu	37	13	86370292	86370292	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:86370292G>A	ENST00000400286.2	-	2	950	c.352C>T	c.(352-354)Cat>Tat	p.H118Y		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	118					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TGATTGATATGAAGTTGTTTC	0.358																																																	0			13											121.0	112.0	115.0					13																	86370292		1833	4083	5916	85268293	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.352C>T	13.37:g.86370292G>A	ENSP00000383143:p.His118Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	85268293	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123070	0.56613	.	.	ENSG00000184564	ENST00000400286	T	0.51071	0.72	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.57932	0.2087	L	0.28115	0.83	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.50056	-0.8872	10	0.30854	T	0.27	-21.3107	19.4432	0.94831	0.0:0.0:1.0:0.0	.	118	Q9H5Y7	SLIK6_HUMAN	Y	118	ENSP00000383143:H118Y	ENSP00000383143:H118Y	H	-	1	0	SLITRK6	85268293	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CAT		SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
FARP1	10160	hgsc.bcm.edu	37	13	99098444	99098444	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr13:99098444C>G	ENST00000319562.6	+	25	3154	c.2889C>G	c.(2887-2889)ttC>ttG	p.F963L	FARP1_ENST00000376586.2_Missense_Mutation_p.F994L|FARP1_ENST00000595437.1_Missense_Mutation_p.F994L	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	963	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GCCTGTTCTTCTACAAATCAC	0.547											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			13											100.0	95.0	97.0					13																	99098444		2203	4300	6503	97896445	SO:0001583	missense	10160			AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.2889C>G	13.37:g.99098444C>G	ENSP00000322926:p.Phe963Leu	Somatic	1341	Capture	Illumina HiSeq	Phase_I	97896445	Q5JVI9|Q6IQ29	Missense_Mutation	SNP	ENST00000319562.6	37	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	35	5.472163	0.96274	.	.	ENSG00000152767	ENST00000376586;ENST00000319562	T;T	0.12039	2.72;2.72	5.32	5.32	0.75619	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.38825	0.1055	M	0.66439	2.03	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.997;1.0	T	0.15321	-1.0441	10	0.87932	D	0	.	19.002	0.92838	0.0:1.0:0.0:0.0	.	963;994	Q9Y4F1;C9JME2	FARP1_HUMAN;.	L	994;963	ENSP00000365771:F994L;ENSP00000322926:F963L	ENSP00000322926:F963L	F	+	3	2	FARP1	97896445	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.037000	0.70956	2.486000	0.83907	0.561000	0.74099	TTC		FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
TUBB8	347688	hgsc.bcm.edu	37	10	93294	93294	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:93294G>A	ENST00000309812.4	-	4	1100	c.1038C>T	c.(1036-1038)ccC>ccT	p.P346P	TUBB8_ENST00000413237.3_5'Flank|TUBB8_ENST00000447903.2_Silent_p.P274P	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	346					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.P346P(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TTACGTTGTTGGGGAGCCAGT	0.502																																					Pancreas(192;2041 3010 9013 18103)												1	Substitution - coding silent(1)	lung(1)	10											93.0	102.0	99.0					10																	93294		2203	4300	6503	83294	SO:0001819	synonymous_variant	347688			AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.1038C>T	10.37:g.93294G>A		Somatic		Capture	Illumina HiSeq	Phase_I	83294	Q5SQX9|Q8WZ78	Silent	SNP	ENST00000309812.4	37	CCDS7051.1																																																																																				TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987	
ACBD5	91452	hgsc.bcm.edu	37	10	27493474	27493474	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:27493474G>T	ENST00000375888.1	-	12	1551	c.1487C>A	c.(1486-1488)cCa>cAa	p.P496Q	ACBD5_ENST00000375905.4_Missense_Mutation_p.P452Q|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Missense_Mutation_p.P378Q|ACBD5_ENST00000375897.3_Missense_Mutation_p.P310Q|ACBD5_ENST00000396271.3_Missense_Mutation_p.P487Q			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	496					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCACCAAGATGGTCTCTGAGA	0.358																																																	0			10											71.0	67.0	68.0					10																	27493474		2203	4300	6503	27533480	SO:0001583	missense	91452			AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.1487C>A	10.37:g.27493474G>T	ENSP00000365049:p.Pro496Gln	Somatic		Capture	Illumina HiSeq	Phase_I	27533480	B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37		.	.	.	.	.	.	.	.	.	.	G	33	5.280735	0.95489	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888	T;T;T;T;T	0.35605	2.27;2.02;1.3;1.35;2.27	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.61060	0.2317	M	0.73962	2.25	0.80722	D	1	D;P;P;D	0.56287	0.975;0.918;0.927;0.97	P;P;P;P	0.61397	0.888;0.546;0.776;0.826	T	0.62666	-0.6806	10	0.87932	D	0	-4.6729	20.0693	0.97712	0.0:0.0:1.0:0.0	.	487;310;485;496	Q5T8D3-3;B7Z2A7;B7Z2R7;Q5T8D3	.;.;.;ACBD5_HUMAN	Q	493;487;452;378;310;496	ENSP00000379568:P487Q;ENSP00000365070:P452Q;ENSP00000365066:P378Q;ENSP00000365062:P310Q;ENSP00000365049:P496Q	ENSP00000365049:P496Q	P	-	2	0	ACBD5	27533480	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.949000	0.75971	2.758000	0.94735	0.563000	0.77884	CCA		ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698	
ZNF488	118738	hgsc.bcm.edu	37	10	48371226	48371226	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:48371226A>C	ENST00000395702.2	+	2	921	c.694A>C	c.(694-696)Act>Cct	p.T232P	ZNF488_ENST00000586537.1_Missense_Mutation_p.T125P|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	232					negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte development (GO:0014003)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						ACTCTGTAGCACTTTTCTGGG	0.567																																																	0			10											105.0	100.0	102.0					10																	48371226		2203	4300	6503	47991232	SO:0001583	missense	118738			AK056666	CCDS73120.1	10q11.22	2014-04-10			ENSG00000165388	ENSG00000265763		"""Zinc fingers, C2H2-type"""	23535	protein-coding gene	gene with protein product							Standard	NM_153034		Approved	FLJ32104	uc001jex.3	Q96MN9	OTTHUMG00000188322	ENST00000395702.2:c.694A>C	10.37:g.48371226A>C	ENSP00000379054:p.Thr232Pro	Somatic		Capture	Illumina HiSeq	Phase_I	47991232	Q05CE0	Missense_Mutation	SNP	ENST00000395702.2	37	CCDS7217.1	.	.	.	.	.	.	.	.	.	.	A	3.612	-0.079339	0.07141	.	.	ENSG00000165388	ENST00000395702	T	0.20598	2.06	5.55	-6.51	0.01878	.	0.454279	0.22512	N	0.059092	T	0.07818	0.0196	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23084	-1.0198	10	0.21540	T	0.41	.	9.1131	0.36741	0.4395:0.1663:0.3942:0.0	.	232	Q96MN9	ZN488_HUMAN	P	232	ENSP00000379054:T232P	ENSP00000379054:T232P	T	+	1	0	ZNF488	47991232	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.278000	0.08490	-1.216000	0.02607	-2.198000	0.00308	ACT		ZNF488-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314632.1	NM_153034	
RBP3	5949	hgsc.bcm.edu	37	10	48390677	48390677	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:48390677C>T	ENST00000224600.4	-	1	314	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	67	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCAGCGTCTGCGGGTCTGAGA	0.612																																																	0			10											54.0	51.0	52.0					10																	48390677		2203	4300	6503	48010683	SO:0001819	synonymous_variant	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.201G>A	10.37:g.48390677C>T		Somatic		Capture	Illumina HiSeq	Phase_I	48010683	Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	CCDS7218.1																																																																																				RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	
SLC18A3	6572	hgsc.bcm.edu	37	10	50819132	50819132	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:50819132C>A	ENST00000374115.3	+	1	786	c.346C>A	c.(346-348)Cct>Act	p.P116T	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	116					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCCGCTACCCTACGGAGAG	0.662																																																	0			10											68.0	70.0	69.0					10																	50819132		2203	4300	6503	50489138	SO:0001583	missense	6572			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.346C>A	10.37:g.50819132C>A	ENSP00000363229:p.Pro116Thr	Somatic		Capture	Illumina HiSeq	Phase_I	50489138	B2R7S1	Missense_Mutation	SNP	ENST00000374115.3	37	CCDS7231.1	.	.	.	.	.	.	.	.	.	.	C	5.974	0.363633	0.11296	.	.	ENSG00000187714	ENST00000374115	T	0.56941	0.43	4.17	4.17	0.49024	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.876201	0.09712	U	0.765505	T	0.34745	0.0908	N	0.11427	0.14	0.34555	D	0.711789	B	0.13145	0.007	B	0.20577	0.03	T	0.30679	-0.9970	10	0.20519	T	0.43	-12.6549	12.2284	0.54474	0.0:0.914:0.0:0.086	.	116	Q16572	VACHT_HUMAN	T	116	ENSP00000363229:P116T	ENSP00000363229:P116T	P	+	1	0	SLC18A3	50489138	1.000000	0.71417	0.887000	0.34795	0.838000	0.47535	5.138000	0.64795	2.148000	0.66965	0.561000	0.74099	CCT		SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055	
ANK3	288	hgsc.bcm.edu	37	10	61829385	61829385	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:61829385A>G	ENST00000280772.2	-	37	11445	c.11254T>C	c.(11254-11256)Tgt>Cgt	p.C3752R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3752					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.C3752S(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCCCTGACAACTGGTCATC	0.398																																																	1	Substitution - Missense(1)	ovary(1)	10											131.0	141.0	137.0					10																	61829385		2203	4300	6503	61499391	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11254T>C	10.37:g.61829385A>G	ENSP00000280772:p.Cys3752Arg	Somatic		Capture	Illumina HiSeq	Phase_I	61499391	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	A	1.754	-0.488391	0.04352	.	.	ENSG00000151150	ENST00000280772	T	0.16196	2.36	5.3	-0.774	0.10991	.	0.813546	0.10352	N	0.684994	T	0.10337	0.0253	N	0.08118	0	0.80722	D	1	B	0.18863	0.031	B	0.18263	0.021	T	0.17440	-1.0369	10	0.44086	T	0.13	.	15.9271	0.79628	0.4587:0.5413:0.0:0.0	.	3752	Q12955	ANK3_HUMAN	R	3752	ENSP00000280772:C3752R	ENSP00000280772:C3752R	C	-	1	0	ANK3	61499391	0.985000	0.35326	0.997000	0.53966	0.999000	0.98932	0.620000	0.24403	-0.009000	0.14296	0.533000	0.62120	TGT		ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
ARID5B	84159	hgsc.bcm.edu	37	10	63852513	63852513	+	Silent	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:63852513T>C	ENST00000279873.7	+	10	3701	c.3291T>C	c.(3289-3291)gcT>gcC	p.A1097A	ARID5B_ENST00000309334.5_Silent_p.A854A	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	1097					adipose tissue development (GO:0060612)|adrenal gland development (GO:0030325)|cell development (GO:0048468)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|female gonad development (GO:0008585)|fibroblast migration (GO:0010761)|kidney development (GO:0001822)|liver development (GO:0001889)|male gonad development (GO:0008584)|multicellular organism growth (GO:0035264)|muscle organ morphogenesis (GO:0048644)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|post-embryonic development (GO:0009791)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					GGCTCCCGGCTGGGTATTCTC	0.542																																																	0			10											68.0	74.0	72.0					10																	63852513		2203	4300	6503	63522519	SO:0001819	synonymous_variant	84159			M73837	CCDS31208.1, CCDS58082.1	10q11.22	2013-02-07			ENSG00000150347	ENSG00000150347		"""-"""	17362	protein-coding gene	gene with protein product		608538				11483573, 11478881	Standard	NM_032199		Approved	FLJ21150, MRF2	uc001jlt.2	Q14865	OTTHUMG00000018298	ENST00000279873.7:c.3291T>C	10.37:g.63852513T>C		Somatic		Capture	Illumina HiSeq	Phase_I	63522519	B4DLB3|Q05DG6|Q32Q59|Q5VST4|Q6NZ42|Q7Z3M4|Q8N421|Q9H786	Silent	SNP	ENST00000279873.7	37	CCDS31208.1																																																																																				ARID5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048233.1	XM_084482	
JMJD1C	221037	hgsc.bcm.edu	37	10	64936164	64936164	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:64936164T>C	ENST00000399262.2	-	24	7512	c.7294A>G	c.(7294-7296)Aac>Gac	p.N2432D	JMJD1C_ENST00000542921.1_Missense_Mutation_p.N2250D|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Missense_Mutation_p.N2195D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2432	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGCTTTTTGTTCACATACCAA	0.398																																																	0			10											127.0	117.0	120.0					10																	64936164		1866	4086	5952	64606170	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7294A>G	10.37:g.64936164T>C	ENSP00000382204:p.Asn2432Asp	Somatic		Capture	Illumina HiSeq	Phase_I	64606170	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827337	0.32329	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.71341	-0.56;-0.56;-0.56	5.75	5.75	0.90469	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.046736	0.85682	D	0.000000	T	0.43656	0.1257	N	0.01817	-0.705	0.80722	D	1	P;B	0.40360	0.714;0.025	B;B	0.40134	0.32;0.021	T	0.57213	-0.7850	10	0.02654	T	1	-15.2545	15.7237	0.77736	0.0:0.0:0.0:1.0	.	2432;2250	Q15652;A0T124	JHD2C_HUMAN;.	D	2432;2195;2250	ENSP00000382204:N2432D;ENSP00000384990:N2195D;ENSP00000444682:N2250D	ENSP00000382204:N2432D	N	-	1	0	JMJD1C	64606170	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.204000	0.58460	2.195000	0.70347	0.533000	0.62120	AAC		JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241	
LRIT1	26103	hgsc.bcm.edu	37	10	85992226	85992226	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:85992226G>A	ENST00000372105.3	-	4	1350	c.1329C>T	c.(1327-1329)agC>agT	p.S443S		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	443	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCAAGGACACGCTGTGGTAAG	0.602																																																	0			10											103.0	78.0	87.0					10																	85992226		2203	4300	6503	85982206	SO:0001819	synonymous_variant	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1329C>T	10.37:g.85992226G>A		Somatic		Capture	Illumina HiSeq	Phase_I	85982206	Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	CCDS7373.1																																																																																				LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613	
GRID1	2894	hgsc.bcm.edu	37	10	87484365	87484365	+	Silent	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:87484365C>T	ENST00000327946.7	-	11	1687	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	GRID1_ENST00000536331.1_Silent_p.K105K	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	534					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						CCATGTACCGCTTGCTGAAGT	0.502										Multiple Myeloma(13;0.14)																																							0			10											79.0	74.0	76.0					10																	87484365		2203	4300	6503	87474345	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.1602G>A	10.37:g.87484365C>T		Somatic		Capture	Illumina HiSeq	Phase_I	87474345	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	ENST00000327946.7	37	CCDS31236.1																																																																																				GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049148.3	XM_043613	
PTEN	5728	hgsc.bcm.edu	37	10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	rs121909219		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:89717672C>T	ENST00000371953.3	+	7	2054	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	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.R233*(77)|p.0?(37)|p.R55fs*1(5)|p.R233fs*10(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R233fs*25(1)|p.R233fs*23(1)|p.R233R(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)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	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"""	133	Substitution - Nonsense(77)|Whole gene deletion(37)|Deletion - Frameshift(11)|Complex - frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)|Substitution - coding silent(1)	endometrium(48)|central_nervous_system(21)|prostate(17)|haematopoietic_and_lymphoid_tissue(10)|lung(9)|large_intestine(6)|skin(6)|ovary(5)|cervix(3)|soft_tissue(3)|breast(3)|urinary_tract(2)	10	GRCh37	CM971277	PTEN	M	rs121909219						155.0	133.0	141.0					10																	89717672		2203	4300	6503	89707652	SO:0001587	stop_gained	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.697C>T	10.37:g.89717672C>T	ENSP00000361021:p.Arg233*	Somatic		Capture	Illumina HiSeq	Phase_I	89707652	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Nonsense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	48	14.428311	0.99795	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.15	0.533	0.17121	.	0.063428	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.2458	14.4841	0.67603	0.5413:0.4587:0.0:0.0	.	.	.	.	X	233	.	.	R	+	1	2	PTEN	89707652	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	1.280000	0.33202	0.512000	0.28257	0.585000	0.79938	CGA		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89720700	89720700	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:89720700A>G	ENST00000371953.3	+	8	2208	c.851A>G	c.(850-852)gAg>gGg	p.E284G	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	284	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.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(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)		CCAGGACCAGAGGAAACCTCA	0.303		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"""	50	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(2)|Unknown(2)	prostate(16)|central_nervous_system(12)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											42.0	47.0	45.0					10																	89720700		2198	4285	6483	89710680	SO:0001583	missense	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.851A>G	10.37:g.89720700A>G	ENSP00000361021:p.Glu284Gly	Somatic		Capture	Illumina HiSeq	Phase_I	89710680	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.700943	0.68501	.	.	ENSG00000171862	ENST00000371953	D	0.85088	-1.94	5.13	5.13	0.70059	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.048693	0.85682	D	0.000000	D	0.83381	0.5242	M	0.66939	2.045	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.79245	-0.1883	9	.	.	.	-5.8021	14.9228	0.70854	1.0:0.0:0.0:0.0	.	284	P60484	PTEN_HUMAN	G	284	ENSP00000361021:E284G	.	E	+	2	0	PTEN	89710680	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.861000	0.92277	1.942000	0.56320	0.482000	0.46254	GAG		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89725048	89725048	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:89725048A>G	ENST00000371953.3	+	9	2388	c.1031A>G	c.(1030-1032)aAg>aGg	p.K344R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	344	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.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.K344R(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)		CTCTAGGTGAAGCTGTACTTC	0.323		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"""	48	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(1)|Deletion - In frame(1)	prostate(17)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											40.0	38.0	38.0					10																	89725048		2203	4300	6503	89715028	SO:0001583	missense	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.1031A>G	10.37:g.89725048A>G	ENSP00000361021:p.Lys344Arg	Somatic		Capture	Illumina HiSeq	Phase_I	89715028	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	9.150	1.016142	0.19355	.	.	ENSG00000171862	ENST00000371953	D	0.85258	-1.96	5.35	4.22	0.49857	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.085297	0.85682	D	0.000000	T	0.78342	0.4268	L	0.43923	1.385	0.58432	D	0.999999	B	0.16166	0.016	B	0.14578	0.011	T	0.70296	-0.4911	9	.	.	.	-6.6283	11.105	0.48197	0.9273:0.0:0.0727:0.0	.	344	P60484	PTEN_HUMAN	R	344	ENSP00000361021:K344R	.	K	+	2	0	PTEN	89715028	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.918000	0.92759	0.979000	0.38497	0.482000	0.46254	AAG		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TNKS2	80351	hgsc.bcm.edu	37	10	93576985	93576985	+	Splice_Site	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:93576985T>C	ENST00000371627.4	+	3	898	c.519T>C	c.(517-519)acT>acC	p.T173T		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	173					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CAGTGCTTACTGGTAAGTCTG	0.438																																																	0			10											72.0	56.0	62.0					10																	93576985		2203	4300	6503	93566965	SO:0001630	splice_region_variant	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.520+1T>C	10.37:g.93576985T>C		Somatic		Capture	Illumina HiSeq	Phase_I	93566965	B2RBD3|Q9H8F2|Q9HAS4	Silent	SNP	ENST00000371627.4	37	CCDS7417.1																																																																																				TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	Silent
TNKS2	80351	hgsc.bcm.edu	37	10	93586930	93586930	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:93586930C>T	ENST00000371627.4	+	8	1331	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	318					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.P318A(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGACTTGGCTCCCACACCACA	0.348																																																	1	Substitution - Missense(1)	lung(1)	10											104.0	99.0	101.0					10																	93586930		2203	4300	6503	93576910	SO:0001583	missense	80351			AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.952C>T	10.37:g.93586930C>T	ENSP00000360689:p.Pro318Ser	Somatic		Capture	Illumina HiSeq	Phase_I	93576910	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892494	0.91889	.	.	ENSG00000107854	ENST00000371627	T	0.13420	2.59	5.77	5.77	0.91146	Ankyrin repeat-containing domain (1);	0.000000	0.64402	D	0.000011	T	0.11452	0.0279	N	0.11560	0.145	0.80722	D	1	P	0.41131	0.739	B	0.44163	0.443	T	0.27502	-1.0072	10	0.13108	T	0.6	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	318	Q9H2K2	TNKS2_HUMAN	S	318	ENSP00000360689:P318S	ENSP00000360689:P318S	P	+	1	0	TNKS2	93576910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.885000	0.99019	0.655000	0.94253	CCC		TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
RRP12	23223	hgsc.bcm.edu	37	10	99123658	99123658	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:99123658C>T	ENST00000370992.4	-	30	3631	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	RRP12_ENST00000536831.1_Missense_Mutation_p.E892K|RRP12_ENST00000315563.6_Missense_Mutation_p.E1074K|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000414986.1_Missense_Mutation_p.E1113K	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1174						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E1174K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCTTCATCTTCGCCTGGAGCC	0.577																																																	1	Substitution - Missense(1)	central_nervous_system(1)	10											171.0	148.0	156.0					10																	99123658		2203	4300	6503	99113648	SO:0001583	missense	23223				CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3520G>A	10.37:g.99123658C>T	ENSP00000360031:p.Glu1174Lys	Somatic		Capture	Illumina HiSeq	Phase_I	99113648	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Missense_Mutation	SNP	ENST00000370992.4	37	CCDS7457.1	.	.	.	.	.	.	.	.	.	.	c	6.650	0.488484	0.12641	.	.	ENSG00000052749	ENST00000370992;ENST00000315563;ENST00000414986;ENST00000536831	T;T;T;T	0.30714	1.56;1.56;1.54;1.52	5.13	4.23	0.50019	.	0.428769	0.26935	N	0.021757	T	0.11024	0.0269	N	0.02802	-0.49	0.40560	D	0.981209	B;B;B;B	0.29037	0.068;0.231;0.231;0.148	B;B;B;B	0.20384	0.005;0.029;0.029;0.005	T	0.12734	-1.0536	10	0.06757	T	0.87	-19.7558	12.1684	0.54144	0.0:0.9201:0.0:0.0799	.	1113;1074;892;1174	E9PCK7;Q5JTH9-2;F5H456;Q5JTH9	.;.;.;RRP12_HUMAN	K	1174;1074;1113;892	ENSP00000360031:E1174K;ENSP00000324315:E1074K;ENSP00000414863:E1113K;ENSP00000446184:E892K	ENSP00000324315:E1074K	E	-	1	0	RRP12	99113648	0.850000	0.29656	0.780000	0.31762	0.108000	0.19459	4.374000	0.59543	1.165000	0.42670	-0.119000	0.15052	GAA		RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
TCF7L2	6934	hgsc.bcm.edu	37	10	114905790	114905790	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:114905790C>T	ENST00000355995.4	+	8	1316	c.809C>T	c.(808-810)cCa>cTa	p.P270L	TCF7L2_ENST00000369395.1_Missense_Mutation_p.P295L|TCF7L2_ENST00000355717.4_Missense_Mutation_p.P294L|TCF7L2_ENST00000349937.2_Missense_Mutation_p.P266L|TCF7L2_ENST00000545257.1_Missense_Mutation_p.P270L|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P270L|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000352065.5_Missense_Mutation_p.P247L|TCF7L2_ENST00000534894.1_Missense_Mutation_p.P270L|TCF7L2_ENST00000538897.1_Missense_Mutation_p.P270L|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P247L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P270L			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	270	Mediates interaction with MAD2L2.|Pro-rich.				blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCAGTGTACCCAATCACGACA	0.507			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0			10											209.0	191.0	197.0					10																	114905790		2203	4300	6503	114895780	SO:0001583	missense	6934			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.809C>T	10.37:g.114905790C>T	ENSP00000348274:p.Pro270Leu	Somatic		Capture	Illumina HiSeq	Phase_I	114895780	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37		.	.	.	.	.	.	.	.	.	.	c	31	5.081650	0.94050	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395	D;D;D;D;D;D;D;D;D	0.99270	-5.09;-5.1;-5.1;-5.11;-5.63;-5.66;-5.62;-5.09;-5.62	5.82	5.82	0.92795	.	0.111467	0.64402	D	0.000009	D	0.99339	0.9768	M	0.67397	2.05	0.80722	D	1	P;D;D;P;D;P;D;P;B;D;D;D;P;D;D;D;D;P;P	0.89917	0.892;0.992;0.991;0.945;0.998;0.892;0.998;0.869;0.11;0.957;0.974;0.996;0.948;0.998;1.0;1.0;0.967;0.73;0.945	P;D;D;P;D;P;P;P;B;P;P;D;B;D;D;D;P;B;P	0.91635	0.652;0.909;0.916;0.788;0.954;0.621;0.858;0.66;0.068;0.71;0.9;0.933;0.437;0.923;0.999;0.983;0.839;0.356;0.468	D	0.99834	1.1056	10	0.87932	D	0	-5.3785	20.1022	0.97879	0.0:1.0:0.0:0.0	.	127;87;164;270;141;185;243;247;247;213;270;247;247;247;294;247;270;243;247	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	L	270;270;270;270;294;270;270;247;266;247;295	ENSP00000348274:P270L;ENSP00000440547:P270L;ENSP00000444972:P270L;ENSP00000446238:P270L;ENSP00000347949:P294L;ENSP00000446172:P270L;ENSP00000443626:P270L;ENSP00000358404:P247L;ENSP00000344823:P247L	ENSP00000298692:P266L	P	+	2	0	TCF7L2	114895780	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.814000	0.86154	2.759000	0.94783	0.555000	0.69702	CCA		TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
HSPA12A	259217	hgsc.bcm.edu	37	10	118434446	118434446	+	Missense_Mutation	SNP	C	C	T	rs555217651		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:118434446C>T	ENST00000369209.3	-	12	1978	c.1874G>A	c.(1873-1875)cGc>cAc	p.R625H	RP11-498B4.5_ENST00000433600.1_RNA	NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	625						extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GAGATCCAGGCGGAGCGTGCC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17238	0.0		0.0	False		,,,				2504	0.0																0			10											82.0	84.0	83.0					10																	118434446		2032	4193	6225	118424436	SO:0001583	missense	259217			AB007877	CCDS41569.1	10q25.3	2011-09-02	2002-08-29		ENSG00000165868	ENSG00000165868		"""Heat shock proteins / HSP70"""	19022	protein-coding gene	gene with protein product		610701	"""heat shock 70kD protein 12A"""			12552099	Standard	NM_025015		Approved	FLJ13874, KIAA0417	uc001lct.3	O43301	OTTHUMG00000019107	ENST00000369209.3:c.1874G>A	10.37:g.118434446C>T	ENSP00000358211:p.Arg625His	Somatic		Capture	Illumina HiSeq	Phase_I	118424436		Missense_Mutation	SNP	ENST00000369209.3	37	CCDS41569.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.299989	0.23650	.	.	ENSG00000165868	ENST00000369209	T	0.44083	0.93	5.78	5.78	0.91487	.	0.050467	0.64402	D	0.000001	T	0.33990	0.0882	N	0.24115	0.695	0.48901	D	0.999721	B	0.23442	0.085	B	0.16722	0.016	T	0.04961	-1.0915	10	0.37606	T	0.19	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	625	O43301	HS12A_HUMAN	H	625	ENSP00000358211:R625H	ENSP00000358211:R625H	R	-	2	0	HSPA12A	118424436	1.000000	0.71417	1.000000	0.80357	0.519000	0.34347	5.743000	0.68655	2.749000	0.94314	0.655000	0.94253	CGC		HSPA12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050530.1	NM_025015	
TACC2	10579	hgsc.bcm.edu	37	10	123970169	123970169	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:123970169C>T	ENST00000369005.1	+	9	6569	c.6229C>T	c.(6229-6231)Ccc>Tcc	p.P2077S	TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.P2081S|TACC2_ENST00000513429.1_Missense_Mutation_p.P223S|TACC2_ENST00000369004.3_Missense_Mutation_p.P155S|TACC2_ENST00000515603.1_Missense_Mutation_p.P2032S|TACC2_ENST00000358010.1_Missense_Mutation_p.P223S|TACC2_ENST00000515273.1_Missense_Mutation_p.P2081S|TACC2_ENST00000260733.3_Missense_Mutation_p.P155S|TACC2_ENST00000368999.1_Missense_Mutation_p.P155S|TACC2_ENST00000360561.3_Missense_Mutation_p.P155S|TACC2_ENST00000334433.3_Missense_Mutation_p.P2077S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2077					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGATTCCGTCCCCATCTCTAA	0.572																																																	0			10											103.0	99.0	100.0					10																	123970169		2203	4300	6503	123960159	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6229C>T	10.37:g.123970169C>T	ENSP00000358001:p.Pro2077Ser	Somatic		Capture	Illumina HiSeq	Phase_I	123960159	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.956917	0.34565	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.10477	3.84;3.31;3.9;3.87;3.84;3.31;3.9;3.15;3.17;3.14;3.17;2.87	5.64	5.64	0.86602	.	0.000000	0.36482	N	0.002575	T	0.25195	0.0612	M	0.65975	2.015	0.43814	D	0.996377	P;P;P;P;P;P;P;P;P	0.51057	0.837;0.899;0.485;0.941;0.899;0.743;0.619;0.619;0.941	B;B;B;P;B;B;B;B;P	0.51016	0.392;0.421;0.146;0.656;0.421;0.281;0.281;0.392;0.656	T	0.00192	-1.1935	10	0.48119	T	0.1	-8.2029	19.7154	0.96115	0.0:1.0:0.0:0.0	.	172;2081;155;2032;2081;155;155;223;2077	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	S	2077;223;2081;2032;2077;223;2081;2067;155;155;155;155;172	ENSP00000358001:P2077S;ENSP00000425062:P223S;ENSP00000424467:P2081S;ENSP00000427618:P2032S;ENSP00000334280:P2077S;ENSP00000350701:P223S;ENSP00000395048:P2081S;ENSP00000353763:P155S;ENSP00000357995:P155S;ENSP00000422815:P155S;ENSP00000260733:P155S;ENSP00000420967:P172S	ENSP00000260733:P155S	P	+	1	0	TACC2	123960159	1.000000	0.71417	0.163000	0.22734	0.293000	0.27360	3.133000	0.50531	2.664000	0.90586	0.655000	0.94253	CCC		TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
FANK1	92565	hgsc.bcm.edu	37	10	127697034	127697034	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:127697034C>T	ENST00000368693.1	+	8	868	c.764C>T	c.(763-765)tCg>tTg	p.S255L	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368695.1_Missense_Mutation_p.S249L			Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	255						cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TCTGCGGTGTCGGGAAATCAG	0.527																																																	0			10											116.0	112.0	113.0					10																	127697034		2203	4300	6503	127687024	SO:0001583	missense	92565			BC024189	CCDS31309.1	10q26.2	2013-02-11	2005-03-01		ENSG00000203780	ENSG00000203780		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	23527	protein-coding gene	gene with protein product		611640	"""fibronectin type 3 and ankyrin repeat domains 1"""			12477932	Standard	NM_145235		Approved		uc001ljh.4	Q8TC84	OTTHUMG00000019241	ENST00000368693.1:c.764C>T	10.37:g.127697034C>T	ENSP00000357682:p.Ser255Leu	Somatic		Capture	Illumina HiSeq	Phase_I	127687024	Q6UXY9|Q6X7T6	Missense_Mutation	SNP	ENST00000368693.1	37	CCDS31309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.96|13.96	2.391792|2.391792	0.42410|0.42410	.|.	.|.	ENSG00000203780|ENSG00000203780	ENST00000456942|ENST00000368695;ENST00000368693;ENST00000368691;ENST00000368692	.|T;T;T	.|0.65916	.|-0.18;-0.18;-0.11	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Ankyrin repeat-containing domain (4);	.|0.184605	.|0.36932	.|N	.|0.002325	T|T	0.48259|0.48259	0.1490|0.1490	N|N	0.25890|0.25890	0.77|0.77	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.48589	.|0.912;0.854;0.742	.|B;B;B	.|0.37480	.|0.242;0.162;0.251	T|T	0.45963|0.45963	-0.9225|-0.9225	5|10	.|0.22109	.|T	.|0.4	-13.9202|-13.9202	18.4482|18.4482	0.90693|0.90693	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|281;255;255	.|Q8TC84-3;Q8TC84-2;Q8TC84	.|.;.;FANK1_HUMAN	W|L	150|249;255;233;281	.|ENSP00000357684:S249L;ENSP00000357682:S255L;ENSP00000357680:S233L	.|ENSP00000357680:S233L	R|S	+|+	1|2	2|0	FANK1|FANK1	127687024|127687024	0.926000|0.926000	0.31397|0.31397	0.102000|0.102000	0.21198|0.21198	0.109000|0.109000	0.19521|0.19521	5.180000|5.180000	0.65048|0.65048	2.634000|2.634000	0.89283|0.89283	0.655000|0.655000	0.94253|0.94253	CGG|TCG		FANK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145235	
DNAH5	1767	hgsc.bcm.edu	37	5	13829656	13829656	+	Missense_Mutation	SNP	G	G	A	rs140690090		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:13829656G>A	ENST00000265104.4	-	38	6511	c.6407C>T	c.(6406-6408)aCg>aTg	p.T2136M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2136	AAA 1. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGTAGAGCGTGAAAAACTT	0.448									Kartagener syndrome																																								0			5						G	MET/THR	0,4406		0,0,2203	110.0	99.0	103.0		6407	5.6	1.0	5	dbSNP_134	103	2,8598	2.2+/-6.3	0,2,4298	no	missense	DNAH5	NM_001369.2	81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	2136/4625	13829656	2,13004	2203	4300	6503	13882656	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6407C>T	5.37:g.13829656G>A	ENSP00000265104:p.Thr2136Met	Somatic		Capture	Illumina HiSeq	Phase_I	13882656	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669455	0.88348	0.0	2.33E-4	ENSG00000039139	ENST00000265104	T	0.39229	1.09	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.56352	0.1979	L	0.49513	1.565	0.80722	D	1	D	0.61697	0.99	P	0.57057	0.812	T	0.57225	-0.7848	10	0.66056	D	0.02	.	19.5353	0.95251	0.0:0.0:1.0:0.0	.	2136	Q8TE73	DYH5_HUMAN	M	2136	ENSP00000265104:T2136M	ENSP00000265104:T2136M	T	-	2	0	DNAH5	13882656	1.000000	0.71417	0.959000	0.39883	0.959000	0.62525	4.936000	0.63506	2.607000	0.88179	0.655000	0.94253	ACG		DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
OTULIN	90268	hgsc.bcm.edu	37	5	14681609	14681609	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:14681609C>T	ENST00000284274.4	+	4	439	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W		NM_138348.4	NP_612357.4	Q96BN8	OTUL_HUMAN		121	OTU.				canonical Wnt signaling pathway (GO:0060070)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|protein linear deubiquitination (GO:1990108)|sprouting angiogenesis (GO:0002040)	cytoplasm (GO:0005737)|LUBAC complex (GO:0071797)	cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					CACCTCCATACGGCGAGTCCG	0.532																																																	0			5											97.0	104.0	102.0					5																	14681609		2038	4195	6233	14734609	SO:0001583	missense	90268																														ENST00000284274.4:c.361C>T	5.37:g.14681609C>T	ENSP00000284274:p.Arg121Trp	Somatic		Capture	Illumina HiSeq	Phase_I	14734609	D3DTD3|Q8NAS0|Q96IA3	Missense_Mutation	SNP	ENST00000284274.4	37	CCDS43302.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621537	0.66787	.	.	ENSG00000154124	ENST00000284274	T	0.21361	2.01	5.82	-6.14	0.02111	.	0.000000	0.85682	D	0.000000	T	0.43366	0.1244	M	0.72118	2.19	0.41634	D	0.989035	D	0.89917	1.0	D	0.91635	0.999	T	0.55147	-0.8186	10	0.87932	D	0	-23.5851	21.9729	0.99964	0.226:0.774:0.0:0.0	.	121	Q96BN8	F105B_HUMAN	W	121	ENSP00000284274:R121W	ENSP00000284274:R121W	R	+	1	2	FAM105B	14734609	0.163000	0.22920	0.005000	0.12908	0.874000	0.50279	0.375000	0.20518	-1.390000	0.02087	-0.309000	0.09137	CGG		FAM105B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366012.1		
NIM1K	167359	hgsc.bcm.edu	37	5	43280529	43280529	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:43280529T>C	ENST00000512796.1	+	4	2508	c.1009T>C	c.(1009-1011)Ttc>Ctc	p.F337L	NIM1_ENST00000326035.2_Missense_Mutation_p.F337L			Q8IY84	NIM1_HUMAN		337					protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										TTTGGAACCTTTCCAACTGGA	0.468																																																	0			5											101.0	97.0	98.0					5																	43280529		2203	4300	6503	43316286	SO:0001583	missense	167359																														ENST00000512796.1:c.1009T>C	5.37:g.43280529T>C	ENSP00000420849:p.Phe337Leu	Somatic		Capture	Illumina HiSeq	Phase_I	43316286	B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	T	14.23	2.473093	0.43942	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.22134	1.97;1.97	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	N	0.25380	0.74	0.58432	D	0.999994	B	0.02656	0.0	B	0.04013	0.001	T	0.13548	-1.0505	10	0.17369	T	0.5	.	10.1543	0.42814	0.0:0.0743:0.0:0.9257	.	337	Q8IY84	NIM1_HUMAN	L	337	ENSP00000313572:F337L;ENSP00000420849:F337L	ENSP00000313572:F337L	F	+	1	0	AC114947.1	43316286	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.155000	0.64900	2.135000	0.66039	0.533000	0.62120	TTC		NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1		
PIK3R1	5295	hgsc.bcm.edu	37	5	67591116	67591116	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:67591116T>C	ENST00000521381.1	+	13	2325	c.1709T>C	c.(1708-1710)cTt>cCt	p.L570P	PIK3R1_ENST00000274335.5_Missense_Mutation_p.L570P|PIK3R1_ENST00000396611.1_Missense_Mutation_p.L570P|PIK3R1_ENST00000521657.1_Missense_Mutation_p.L570P|PIK3R1_ENST00000320694.8_Missense_Mutation_p.L270P|PIK3R1_ENST00000336483.5_Missense_Mutation_p.L300P|PIK3R1_ENST00000523872.1_Missense_Mutation_p.L207P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	570					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.L570_Q572del(1)|p.L570_D578del(1)|p.0?(1)|p.?(1)|p.L570P(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAACCAGACCTTATCCAGCTG	0.368			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	5	Deletion - In frame(2)|Substitution - Missense(1)|Whole gene deletion(1)|Unknown(1)	large_intestine(2)|lung(1)|ovary(1)|central_nervous_system(1)	5											147.0	145.0	146.0					5																	67591116		2203	4300	6503	67626872	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1709T>C	5.37:g.67591116T>C	ENSP00000428056:p.Leu570Pro	Somatic		Capture	Illumina HiSeq	Phase_I	67626872	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355975	0.82243	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.59676	0.2211	M	0.85859	2.78	0.80722	D	1	D;D;D;D	0.89917	0.998;0.997;0.991;1.0	D;D;D;D	0.85130	0.942;0.977;0.961;0.997	T	0.67577	-0.5635	10	0.87932	D	0	-12.1122	14.6505	0.68794	0.0:0.0:0.0:1.0	.	240;300;270;570	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	P	570;570;570;570;270;300;207	ENSP00000428056:L570P;ENSP00000429277:L570P;ENSP00000379855:L570P;ENSP00000274335:L570P;ENSP00000323512:L270P;ENSP00000338554:L300P;ENSP00000430098:L207P	ENSP00000274335:L570P	L	+	2	0	PIK3R1	67626872	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.825000	0.86693	2.103000	0.63969	0.477000	0.44152	CTT		PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
APC	324	hgsc.bcm.edu	37	5	112116592	112116592	+	Nonsense_Mutation	SNP	C	C	T	rs587781392		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:112116592C>T	ENST00000457016.1	+	6	1017	c.637C>T	c.(637-639)Cga>Tga	p.R213*	APC_ENST00000257430.4_Nonsense_Mutation_p.R213*|APC_ENST00000508376.2_Nonsense_Mutation_p.R213*|RNU6-482P_ENST00000391068.1_RNA			P25054	APC_HUMAN	adenomatous polyposis coli	213	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R213*(20)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATGGAAAAACGAGCACAGGT	0.348		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	20	Substitution - Nonsense(20)	large_intestine(19)|lung(1)	5	GRCh37	CM920027	APC	M							58.0	57.0	58.0					5																	112116592		2202	4300	6502	112144491	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.637C>T	5.37:g.112116592C>T	ENSP00000413133:p.Arg213*	Somatic		Capture	Illumina HiSeq	Phase_I	112144491	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.046788	0.97231	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.56	3.74	0.42951	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.0079	14.2561	0.66053	0.4075:0.5925:0.0:0.0	.	.	.	.	X	213;223;213;213;213	.	ENSP00000257430:R213X	R	+	1	2	APC	112144491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.672000	0.46850	0.659000	0.30945	0.655000	0.94253	CGA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175210	112175210	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:112175210A>G	ENST00000457016.1	+	16	4299	c.3919A>G	c.(3919-3921)Ata>Gta	p.I1307V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.I1307V|APC_ENST00000508376.2_Missense_Mutation_p.I1307V			P25054	APC_HUMAN	adenomatous polyposis coli	1307	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		I -> K (in 6% of Ashkenazi Jews; associated with slightly increased risk of colon and breast cancer; dbSNP:rs1801155). {ECO:0000269|PubMed:9724771, ECO:0000269|PubMed:9731522, ECO:0000269|PubMed:9731533, ECO:0000269|PubMed:9973276}.		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.I1307fs*8(15)|p.I1307fs*1(3)|p.I1307fs*14(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AATAGCAGAAATAAAAGAAAA	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	21	Insertion - Frameshift(15)|Deletion - Frameshift(4)|Unknown(1)|Complex - frameshift(1)	large_intestine(19)|soft_tissue(1)|skin(1)	5	GRCh37	CM086766	APC	M							53.0	55.0	54.0					5																	112175210		2202	4300	6502	112203109	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3919A>G	5.37:g.112175210A>G	ENSP00000413133:p.Ile1307Val	Somatic		Capture	Illumina HiSeq	Phase_I	112203109	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	1.436	-0.568895	0.03910	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88975	-2.45;-2.45;-2.45	5.73	3.53	0.40419	.	0.581060	0.19747	N	0.106984	T	0.78407	0.4278	N	0.19112	0.55	0.22811	N	0.99871	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61501	-0.7050	9	.	.	.	-6.2797	8.6908	0.34264	0.6019:0.3107:0.0874:0.0	.	1309;1307	Q4LE70;P25054	.;APC_HUMAN	V	1307	ENSP00000413133:I1307V;ENSP00000257430:I1307V;ENSP00000427089:I1307V	.	I	+	1	0	APC	112203109	0.996000	0.38824	0.992000	0.48379	0.782000	0.44232	1.389000	0.34453	0.543000	0.28864	0.533000	0.62120	ATA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175242	112175242	+	Silent	SNP	A	A	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:112175242A>G	ENST00000457016.1	+	16	4331	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.E1317E|APC_ENST00000508376.2_Silent_p.E1317E			P25054	APC_HUMAN	adenomatous polyposis coli	1317	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		E -> Q (may contribute to colorectal tumor development; dbSNP:rs1801166). {ECO:0000269|PubMed:9724771}.		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.D1318fs*3(1)|p.K1192fs*3(1)|p.?(1)|p.A1316fs*9(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGTCAGCTGAAGATCCTGTGA	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	4	Deletion - Frameshift(3)|Unknown(1)	large_intestine(2)|soft_tissue(1)|skin(1)	5											60.0	62.0	61.0					5																	112175242		2202	4300	6502	112203141	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3951A>G	5.37:g.112175242A>G		Somatic		Capture	Illumina HiSeq	Phase_I	112203141	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA7	56141	hgsc.bcm.edu	37	5	140215402	140215402	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:140215402G>A	ENST00000525929.1	+	1	1434	c.1434G>A	c.(1432-1434)tcG>tcA	p.S478S	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.S478S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	478	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGTGTCGGCGGGGGACG	0.672																																					NSCLC(160;258 2013 5070 22440 28951)												0			5											43.0	49.0	47.0					5																	140215402		2201	4297	6498	140195586	SO:0001819	synonymous_variant	56141			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1434G>A	5.37:g.140215402G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140195586	O75282	Silent	SNP	ENST00000525929.1	37	CCDS54918.1																																																																																				PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910	
PCDHA8	56140	hgsc.bcm.edu	37	5	140222316	140222316	+	Silent	SNP	G	G	A	rs202126810		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:140222316G>A	ENST00000531613.1	+	1	1410	c.1410G>A	c.(1408-1410)ccG>ccA	p.P470P	PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.P470P|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	470	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAACCCGCCGGGCTGCCACA	0.672																																																	0			5											38.0	43.0	41.0					5																	140222316		2193	4252	6445	140202500	SO:0001819	synonymous_variant	56140			AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1410G>A	5.37:g.140222316G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140202500	B9EGT7|O75281	Silent	SNP	ENST00000531613.1	37	CCDS54919.1																																																																																				PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911	
PCDHA13	56136	hgsc.bcm.edu	37	5	140263464	140263464	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:140263464G>A	ENST00000289272.2	+	1	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.A537A|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	537	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACTCTG	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)												0			5											73.0	78.0	76.0					5																	140263464		2203	4299	6502	140243648	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1611G>A	5.37:g.140263464G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140243648	O75277	Silent	SNP	ENST00000289272.2	37	CCDS4240.1																																																																																				PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
FAM71B	153745	hgsc.bcm.edu	37	5	156589770	156589770	+	Silent	SNP	G	G	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:156589770G>A	ENST00000302938.4	-	2	1601	c.1506C>T	c.(1504-1506)caC>caT	p.H502H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	502						nucleus (GO:0005634)		p.H502H(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGTGGAGCTGTGGGTGGAGC	0.488																																																	1	Substitution - coding silent(1)	ovary(1)	5											165.0	165.0	165.0					5																	156589770		2203	4300	6503	156522348	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1506C>T	5.37:g.156589770G>A		Somatic		Capture	Illumina HiSeq	Phase_I	156522348	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
ATP10B	23120	hgsc.bcm.edu	37	5	160016682	160016682	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:160016682C>A	ENST00000327245.5	-	24	4513	c.3667G>T	c.(3667-3669)Gat>Tat	p.D1223Y		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1223					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTAAAGACATCTATATCAGAG	0.463																																																	0			5											170.0	175.0	174.0					5																	160016682		1954	4144	6098	159949260	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3667G>T	5.37:g.160016682C>A	ENSP00000313600:p.Asp1223Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	159949260	Q9H725	Missense_Mutation	SNP	ENST00000327245.5	37	CCDS43394.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987760	0.53934	.	.	ENSG00000118322	ENST00000327245	T	0.51071	0.72	5.4	5.4	0.78164	.	0.117031	0.56097	D	0.000034	T	0.73110	0.3545	M	0.91872	3.25	0.19300	N	0.999976	D	0.76494	0.999	P	0.59761	0.863	T	0.71318	-0.4629	9	.	.	.	.	18.242	0.89970	0.0:1.0:0.0:0.0	.	1223	O94823	AT10B_HUMAN	Y	1223	ENSP00000313600:D1223Y	.	D	-	1	0	ATP10B	159949260	0.135000	0.22499	0.151000	0.22473	0.665000	0.39181	3.944000	0.56629	2.544000	0.85801	0.650000	0.86243	GAT		ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153	
TBC1D9B	23061	hgsc.bcm.edu	37	5	179291016	179291016	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr5:179291016C>G	ENST00000356834.3	-	22	3222	c.3185G>C	c.(3184-3186)gGa>gCa	p.G1062A	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.G1045A|TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.G221A|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.G203A	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1062						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCACCTCTCCGATGCGGAG	0.617																																																	0			5											56.0	44.0	48.0					5																	179291016		2203	4300	6503	179223622	SO:0001583	missense	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.3185G>C	5.37:g.179291016C>G	ENSP00000349291:p.Gly1062Ala	Somatic		Capture	Illumina HiSeq	Phase_I	179223622	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Missense_Mutation	SNP	ENST00000356834.3	37	CCDS43408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.912336|4.912336	0.92178|0.92178	.|.	.|.	ENSG00000197226|ENSG00000197226	ENST00000524222|ENST00000356834;ENST00000355235;ENST00000519746;ENST00000444477;ENST00000544438	.|T;T;T;T	.|0.57436	.|0.4;0.4;0.4;0.4	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.76744|0.76744	0.4030|0.4030	M|M	0.84683|0.84683	2.71|2.71	0.80722|0.80722	D|D	1|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	.|0.999;1.0;0.999;1.0;0.999	T|T	0.79188|0.79188	-0.1906|-0.1906	5|10	.|0.52906	.|T	.|0.07	-26.077|-26.077	19.0961|19.0961	0.93251|0.93251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1044;1045;1062;261;136	.|A1L3A9;Q66K14-2;Q66K14;B3KM54;F5H5B8	.|.;.;TBC9B_HUMAN;.;.	Q|A	105|1062;1045;221;203;136	.|ENSP00000349291:G1062A;ENSP00000347375:G1045A;ENSP00000430293:G221A;ENSP00000401585:G203A	.|ENSP00000347375:G1045A	E|G	-|-	1|2	0|0	TBC1D9B|TBC1D9B	179223622|179223622	1.000000|1.000000	0.71417|0.71417	0.957000|0.957000	0.39632|0.39632	0.960000|0.960000	0.62799|0.62799	7.743000|7.743000	0.85020|0.85020	2.506000|2.506000	0.84524|0.84524	0.462000|0.462000	0.41574|0.41574	GAG|GGA		TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253501.3	NM_015043	
CLMP	79827	hgsc.bcm.edu	37	11	122953916	122953916	+	Splice_Site	SNP	C	C	T			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:122953916C>T	ENST00000448775.2	-	5	897		c.e5-1		CLMP_ENST00000530371.1_Splice_Site	NM_024769.2	NP_079045.1	Q9H6B4	CLMP_HUMAN	CXADR-like membrane protein						digestive tract development (GO:0048565)	cell surface (GO:0009986)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TGGTTGTAGTCTGCACAAGCA	0.433																																																	0			11											127.0	118.0	121.0					11																	122953916		2202	4299	6501	122459126	SO:0001630	splice_region_variant	79827			BC009371	CCDS8441.1	11q24	2013-01-29			ENSG00000166250	ENSG00000166250		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24039	protein-coding gene	gene with protein product	"""adipocyte-specific adhesion molecule"", ""coxsackie- and adenovirus receptor-like membrane protein"", ""adipocyte adhesion molecule"""	611693				12851705, 14573622	Standard	NM_024769		Approved	ASAM, FLJ22415, ACAM	uc001pyt.3	Q9H6B4		ENST00000448775.2:c.557-1G>A	11.37:g.122953916C>T		Somatic		Capture	Illumina HiSeq	Phase_I	122459126		Splice_Site	SNP	ENST00000448775.2	37	CCDS8441.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.032818	0.75504	.	.	ENSG00000166250	ENST00000448775	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9501	0.86243	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CLMP	122459126	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	6.378000	0.73150	2.439000	0.82584	0.563000	0.77884	.		CLMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387542.1	NM_024769	Intron
MLIP	90523	hgsc.bcm.edu	37	6	54067033	54067033	+	Splice_Site	SNP	T	T	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:54067033T>C	ENST00000274897.5	+	10	1226		c.e10+2		MLIP_ENST00000509997.1_Splice_Site|MLIP_ENST00000370876.2_Splice_Site|MLIP_ENST00000502396.1_Splice_Site|MLIP_ENST00000511744.1_Splice_Site|MLIP_ENST00000358276.5_Splice_Site|MLIP_ENST00000370877.2_Splice_Site|MLIP_ENST00000514921.1_Splice_Site	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTGAACAGGTGAGCACATAC	0.254																																																	1	Unknown(1)	ovary(1)	6											71.0	70.0	70.0					6																	54067033		2203	4300	6503	54174992	SO:0001630	splice_region_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1113+2T>C	6.37:g.54067033T>C		Somatic		Capture	Illumina HiSeq	Phase_I	54174992	B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site	SNP	ENST00000274897.5	37	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111392	0.56398	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000502396;ENST00000358276;ENST00000514433	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2533	0.54610	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLIP	54174992	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	4.586000	0.60984	2.147000	0.66899	0.477000	0.44152	.		MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Intron
ALOX12B	242	hgsc.bcm.edu	37	17	7978912	7978912	+	Splice_Site	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:7978912C>A	ENST00000319144.4	-	12	1915		c.e12+1		ALOX12B_ENST00000577351.1_Intron	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type						arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGGCCCATACCTGAGCTCTC	0.587										Multiple Myeloma(8;0.094)																																							0			17											94.0	97.0	96.0					17																	7978912		2203	4300	6503	7919637	SO:0001630	splice_region_variant	242			AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1654+1G>T	17.37:g.7978912C>A		Somatic		Capture	Illumina HiSeq	Phase_I	7919637		Splice_Site	SNP	ENST00000319144.4	37	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	.	17.53	3.413117	0.62511	.	.	ENSG00000179477	ENST00000319144	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2286	0.82318	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ALOX12B	7919637	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	4.660000	0.61511	2.125000	0.65367	0.462000	0.41574	.		ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3		Intron
CADPS	8618	hgsc.bcm.edu	37	3	62499312	62499312	+	Intron	SNP	C	C	T	rs557590790		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:62499312C>T	ENST00000383710.4	-	17	2931				CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Splice_Site	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator						catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TAGGTACTCACGAATGGTTAA	0.433													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18230	0.0		0.0	False		,,,				2504	0.0																0			3											124.0	98.0	107.0					3																	62499312		2203	4300	6503	62474352	SO:0001627	intron_variant	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.2582-869G>A	3.37:g.62499312C>T		Somatic		Capture	Illumina HiSeq	Phase_I	62474352	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Splice_Site	SNP	ENST00000383710.4	37	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.016081	0.54468	.	.	ENSG00000163618	ENST00000283269	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0887	0.97806	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CADPS	62474352	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.825000	0.97269	0.655000	0.94253	.		CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394	
PROM1	8842	hgsc.bcm.edu	37	4	16002243	16002243	+	Splice_Site	SNP	C	C	A			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr4:16002243C>A	ENST00000510224.1	-	14	1703		c.e14-1		PROM1_ENST00000447510.2_Splice_Site|PROM1_ENST00000539194.1_Splice_Site|PROM1_ENST00000543373.1_Splice_Site|PROM1_ENST00000508167.1_Splice_Site|PROM1_ENST00000540805.1_Splice_Site|PROM1_ENST00000505450.1_Splice_Site			O43490	PROM1_HUMAN	prominin 1						camera-type eye photoreceptor cell differentiation (GO:0060219)|glomerular parietal epithelial cell differentiation (GO:0072139)|glomerular visceral epithelial cell differentiation (GO:0072112)|photoreceptor cell maintenance (GO:0045494)|positive regulation of nephron tubule epithelial cell differentiation (GO:2000768)|retina layer formation (GO:0010842)|retina morphogenesis in camera-type eye (GO:0060042)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actinin binding (GO:0042805)|cadherin binding (GO:0045296)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						TCCAACTCCACTGGAAAAAAA	0.333																																																	0			4											46.0	41.0	43.0					4																	16002243		1812	4069	5881	15611341	SO:0001630	splice_region_variant	8842			AF027208	CCDS47029.1, CCDS54746.1, CCDS54747.1, CCDS54748.1	4p15	2013-06-06	2001-11-28	2003-03-28	ENSG00000007062	ENSG00000007062		"""CD molecules"""	9454	protein-coding gene	gene with protein product		604365	"""prominin (mouse)-like 1"", ""macular dystrophy, retinal 2"", ""Stargardt disease 4 (autosomal dominant)"""	PROML1, MCDR2, STGD4		11467842	Standard	NM_006017		Approved	AC133, CD133, RP41, CORD12	uc003goo.2	O43490	OTTHUMG00000160180	ENST00000510224.1:c.1455-1G>T	4.37:g.16002243C>A		Somatic		Capture	Illumina HiSeq	Phase_I	15611341	Q6SV49|Q6SV50|Q6SV51|Q6SV52|Q6SV53|Q96EN6	Splice_Site	SNP	ENST00000510224.1	37	CCDS47029.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.314455	0.60524	.	.	ENSG00000007062	ENST00000447510;ENST00000540805;ENST00000539194;ENST00000505450;ENST00000508167;ENST00000510224;ENST00000543373	.	.	.	5.01	5.01	0.66863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4553	0.87605	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PROM1	15611341	1.000000	0.71417	0.793000	0.32043	0.616000	0.37450	6.872000	0.75536	2.464000	0.83262	0.650000	0.86243	.		PROM1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359595.2	NM_006017	Intron
TCHH	7062	hgsc.bcm.edu	37	1	152084175	152084176	+	In_Frame_Ins	INS	-	-	TGCTGCTCGCGCCTCTCC			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:152084175_152084176insTGCTGCTCGCGCCTCTCC	ENST00000368804.1	-	2	1516_1517	c.1517_1518insGGAGAGGCGCGAGCAGCA	c.(1516-1518)caa>caGGAGAGGCGCGAGCAGCAa	p.506_506Q>QERREQQ		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	506	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCCTTAGTTGCTGCTCGCG	0.644																																																	0			1																																								150350800	SO:0001652	inframe_insertion	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1500_1517dupGGAGAGGCGCGAGCAGCA	1.37:g.152084175_152084176insTGCTGCTCGCGCCTCTCC	ENSP00000357794:p.GluArgArgGluGlnGln506dup	Somatic		Capture	Illumina HiSeq	Phase_I	150350799	Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	CCDS41396.1																																																																																				TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del	Somatic		Capture	Illumina HiSeq	Phase_I	238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
OR2T4	127074	hgsc.bcm.edu	37	1	248524967	248524968	+	Frame_Shift_Del	DEL	AT	AT	-	rs200915140	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	AT	AT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:248524967_248524968delAT	ENST00000366475.1	+	1	85_86	c.85_86delAT	c.(85-87)atgfs	p.M29fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAACATCCAATGGCCAATATC	0.500																																																	0			1																																								246591591	SO:0001589	frameshift_variant	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.85_86delAT	1.37:g.248524967_248524968delAT	ENSP00000355431:p.Met29fs	Somatic		Capture	Illumina HiSeq	Phase_I	246591590	Q6IEZ8	Frame_Shift_Del	DEL	ENST00000366475.1	37	CCDS31113.1																																																																																				OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
RBM43	375287	hgsc.bcm.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:152108088delT	ENST00000331426.5	-	4	557	c.406delA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388																																																	1	Deletion - Frameshift(1)	ovary(1)	2								67,49,4116		3,1,60,6,36,2010	81.0	90.0	87.0			4.3	0.8	2	dbSNP_134	89	115,71,8038		0,1,114,8,54,3935	no	codingComplex	RBM43	NM_198557.2		3,2,174,14,90,5945	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2617,2.741,2.4245			152108088	182,120,12154	2198	4292	6490	151816334	SO:0001589	frameshift_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.406delA	2.37:g.152108088delT	ENSP00000331211:p.Ile136fs	Somatic		Capture	Illumina HiSeq	Phase_I	151816334	B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	CCDS2191.1																																																																																				RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
USP19	10869	hgsc.bcm.edu	37	3	49146603	49146604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:49146603_49146604insC	ENST00000398888.2	-	26	4062_4063	c.3744_3745insG	c.(3742-3747)tggcagfs	p.Q1249fs	USP19_ENST00000453664.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000398892.3_Frame_Shift_Ins_p.Q1289fs|USP19_ENST00000417901.1_Intron|USP19_ENST00000398898.2_Intron|USP19_ENST00000434032.2_Frame_Shift_Ins_p.Q1350fs	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1249					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCAGCTCCTGCCAAATCCGGG	0.678																																																	0			3																																								49121608	SO:0001589	frameshift_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3745dupG	3.37:g.49146605_49146605dupC	ENSP00000381863:p.Gln1249fs	Somatic		Capture	Illumina HiSeq	Phase_I	49121607	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Frame_Shift_Ins	INS	ENST00000398888.2	37	CCDS43090.1																																																																																				USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
ADARB2	105	hgsc.bcm.edu	37	10	1230859	1230859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:1230859delC	ENST00000381312.1	-	9	2310	c.1985delG	c.(1984-1986)ggcfs	p.G662fs	ADARB2_ENST00000381310.3_Frame_Shift_Del_p.G171fs|ADARB2_ENST00000381305.1_Frame_Shift_Del_p.G64fs	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	662	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.G662fs*21(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGGGATGGGCCCCCACAGCT	0.672																																																	1	Deletion - Frameshift(1)	breast(1)	10											44.0	40.0	42.0					10																	1230859		2203	4299	6502	1220859	SO:0001589	frameshift_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1985delG	10.37:g.1230859delC	ENSP00000370713:p.Gly662fs	Somatic		Capture	Illumina HiSeq	Phase_I	1220859	B2RPJ5|Q5VUT6|Q5VW42	Frame_Shift_Del	DEL	ENST00000381312.1	37	CCDS7058.1																																																																																				ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs	Somatic		Capture	Illumina HiSeq	Phase_I	59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
RIC8A	60626	hgsc.bcm.edu	37	11	209895	209897	+	In_Frame_Del	DEL	CCC	CCC	-	rs201633036|rs200641500|rs3832797|rs398102296|rs571957041	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	CCC	CCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:209895_209897delCCC	ENST00000526104.1	+	3	1965_1967	c.621_623delCCC	c.(619-624)aacccc>aac	p.P210del	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_In_Frame_Del_p.P210del|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000527696.1_In_Frame_Del_p.P204del			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	210					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAAGGGAACCCCCCACCCACG	0.601														2073	0.413938	0.2519	0.428	5008	,	,		21433	0.7629		0.327	False		,,,				2504	0.3528																0			11								1167,8,3089		173,0,821,4,0,1134						1.2	0.0		dbSNP_107	49	2820,12,5422		493,0,1834,6,0,1794	no	codingComplex	RIC8A	NM_021932.4		666,0,2655,10,0,2928	A1A1,A1A2,A1R,A2A2,A2R,RR		34.3106,27.5563,32.0099				3987,20,8511				199897	SO:0001651	inframe_deletion	60626			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.621_623delCCC	11.37:g.209898_209900delCCC	ENSP00000432008:p.Pro210del	Somatic		Capture	Illumina HiSeq	Phase_I	199895	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	In_Frame_Del	DEL	ENST00000526104.1	37																																																																																					RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																																	0			11																																								1575778	SO:0001651	inframe_deletion	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del	Somatic		Capture	Illumina HiSeq	Phase_I	1575749	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325	
CELA1	1990	hgsc.bcm.edu	37	12	51723598	51723599	+	Frame_Shift_Ins	INS	-	-	G	rs398102298|rs76813052|rs17860363|rs75442020	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:51723598_51723599insG	ENST00000293636.1	-	7	668_669	c.628_629insC	c.(628-630)ctcfs	p.L210fs		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L210fs*24(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CAAGCAATGGAGGGGGCCCCCA	0.564													GGGGG|GGGGG|GGGGGG|insertion	729	0.145567	0.084	0.1772	5008	,	,		16900	0.0407		0.2863	False		,,,				2504	0.1697																1	Insertion - Frameshift(1)	ovary(1)	12								562,3700		35,492,1604						5.4	0.2		dbSNP_123	63	2566,5688		406,1754,1967	no	frameshift	CELA1	NM_001971.5		441,2246,3571	A1A1,A1R,RR		31.088,13.1863,24.992				3128,9388				50009866	SO:0001589	frameshift_variant	1990				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.629dupC	12.37:g.51723603_51723603dupG	ENSP00000293636:p.Leu210fs	Somatic		Capture	Illumina HiSeq	Phase_I	50009865	Q5MLF0|Q6DJT0|Q6ISM6	Frame_Shift_Ins	INS	ENST00000293636.1	37	CCDS8812.1																																																																																				CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	
TMBIM4	51643	hgsc.bcm.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																																	0			12								30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	64818204	SO:0001589	frameshift_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs	Somatic		Capture	Illumina HiSeq	Phase_I	64818204	Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	ENST00000358230.3	37	CCDS41805.1																																																																																				TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	
ARHGAP5	394	hgsc.bcm.edu	37	14	32560989	32561009	+	In_Frame_Del	DEL	GCAGATTTCCAGTTATGTTTT	GCAGATTTCCAGTTATGTTTT	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	GCAGATTTCCAGTTATGTTTT	GCAGATTTCCAGTTATGTTTT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr14:32560989_32561009delGCAGATTTCCAGTTATGTTTT	ENST00000345122.3	+	2	1429_1449	c.1114_1134delGCAGATTTCCAGTTATGTTTT	c.(1114-1134)gcagatttccagttatgttttdel	p.ADFQLCF372del	ARHGAP5_ENST00000539826.2_In_Frame_Del_p.ADFQLCF372del|ARHGAP5_ENST00000556611.1_In_Frame_Del_p.ADFQLCF372del|ARHGAP5_ENST00000432921.1_In_Frame_Del_p.ADFQLCF372del|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	372	FF 2.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D373N(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GGAAAAGAGAGCAGATTTCCAGTTATGTTTTGTGGTGCTAG	0.353																																					NSCLC(9;77 350 3443 29227 41353)												1	Substitution - Missense(1)	large_intestine(1)	14																																								31630760	SO:0001651	inframe_deletion	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1114_1134delGCAGATTTCCAGTTATGTTTT	14.37:g.32560989_32561009delGCAGATTTCCAGTTATGTTTT	ENSP00000371897:p.Ala372_Phe378del	Somatic		Capture	Illumina HiSeq	Phase_I	31630740	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	In_Frame_Del	DEL	ENST00000345122.3	37	CCDS32062.1																																																																																				ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
ATP8B4	79895	hgsc.bcm.edu	37	15	50273413	50273414	+	In_Frame_Ins	INS	-	-	GAG			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:50273413_50273414insGAG	ENST00000284509.6	-	11	967_968	c.826_827insCTC	c.(826-828)cta>cCTCta	p.275_276insP	ATP8B4_ENST00000559829.1_In_Frame_Ins_p.275_276insP|RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	275						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCATAGTACTAGAGTATTCATC	0.322																																																	0			15																																								48060706	SO:0001652	inframe_insertion	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.824_826dupCTC	15.37:g.50273414_50273416dupGAG	ENSP00000284509:p.Thr275_Leu276insPro	Somatic		Capture	Illumina HiSeq	Phase_I	48060705	Q9H727	In_Frame_Ins	INS	ENST00000284509.6	37	CCDS32238.1																																																																																				ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT		Somatic		Capture	Illumina HiSeq	Phase_I	263602		Frame_Shift_Del	DEL		37																																																																																				0								
TMEM97	27346	hgsc.bcm.edu	37	17	26653807	26653807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:26653807delA	ENST00000226230.6	+	3	664	c.519delA	c.(517-519)agafs	p.R173fs	TMEM97_ENST00000583381.1_Frame_Shift_Del_p.R66fs|TMEM97_ENST00000336687.6_Frame_Shift_Del_p.R66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AAGAGAAAAGAAAAAAAAAAT	0.438																																																	1	Deletion - Frameshift(1)	lung(1)	17								25,25,4214		0,0,25,0,25,2082	59.0	56.0	57.0			2.6	1.0	17		58	45,41,8168		0,0,45,0,41,4041	no	codingComplex	TMEM97	NM_014573.2		0,0,70,0,66,6123	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0419,1.1726,1.0864			26653807	70,66,12382	2203	4300	6503	23677934	SO:0001589	frameshift_variant	27346			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.519delA	17.37:g.26653807delA	ENSP00000226230:p.Arg173fs	Somatic		Capture	Illumina HiSeq	Phase_I	23677934	B4DS02|Q07823	Frame_Shift_Del	DEL	ENST00000226230.6	37	CCDS11226.2																																																																																				TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573	
ZNF233	353355	hgsc.bcm.edu	37	19	44778796	44778796	+	Frame_Shift_Del	DEL	G	G	-	rs386809644|rs59660444|rs75921463|rs386809645	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:44778796delG	ENST00000391958.2	+	5	2110	c.1983delG	c.(1981-1983)tcgfs	p.S661fs	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Frame_Shift_Del_p.S643fs|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTAAGAGTTCGTTGTCTTCAG	0.418													?|G|-|unsure	1594	0.318291	0.6536	0.3372	5008	,	,		19999	0.2579		0.1322	False		,,,				2504	0.1053																0			19											39.0	73.0	61.0					19																	44778796		2094	4294	6388	49470636	SO:0001589	frameshift_variant	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1983delG	19.37:g.44778796delG	ENSP00000375820:p.Ser661fs	Somatic		Capture	Illumina HiSeq	Phase_I	49470636	B2RN78|B2RN79|Q86WL8	Frame_Shift_Del	DEL	ENST00000391958.2	37	CCDS33047.1																																																																																				ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	
ZNF787	126208	hgsc.bcm.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	TCG	TCG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898																0			19																																								61291252	SO:0001651	inframe_deletion	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del	Somatic		Capture	Illumina HiSeq	Phase_I	61291250	O00455	In_Frame_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																				ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs	Somatic		Capture	Illumina HiSeq	Phase_I	74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs371997714|rs66500630|rs113792005|rs376182024|rs541462698|rs369923129|rs553799224	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENST00000381669.3	-	12	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674														708	0.141374	0.0272	0.2291	5008	,	,		20774	0.0565		0.1918	False		,,,				2504	0.2689																0			22								138,3818		23,92,1863						2.2	0.8		dbSNP_130	20	1131,6525		291,549,2988	no	coding	BAIAP2L2	NM_025045.4		314,641,4851	A1A1,A1R,RR		14.7727,3.4884,10.9283				1269,10343				36812340	SO:0001651	inframe_deletion	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	22.37:g.38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENSP00000371085:p.Ile441_Arg454del	Somatic		Capture	Illumina HiSeq	Phase_I	36812299	B0QYE2|Q96BG7	In_Frame_Del	DEL	ENST00000381669.3	37	CCDS43018.1																																																																																				BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045	
VCX3B	425054	hgsc.bcm.edu	37	X	8434287	8434316	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	rs377669206|rs369681806|rs374799202		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENST00000381032.1	+	3	911_940	c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	c.(604-633)gaaccactgagtcaggagagcgagatggaadel	p.EPLSQESEME202del	VCX3B_ENST00000440654.2_In_Frame_Del_p.EPLSQESEME152del|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_In_Frame_Del_p.EPLSQESEME172del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESEME170del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	202	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.M180V(2)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGA	0.565																																																	2	Substitution - Missense(2)	prostate(1)|skin(1)	X																																								8394316	SO:0001651	inframe_deletion	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	X.37:g.8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENSP00000370420:p.Glu202_Glu211del	Somatic		Capture	Illumina HiSeq	Phase_I	8394287	C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	CCDS48077.2																																																																																				VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1		
TCHH	7062	hgsc.bcm.edu	37	1	152084175	152084176	+	In_Frame_Ins	INS	-	-	TGCTGCTCGCGCCTCTCC			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:152084175_152084176insTGCTGCTCGCGCCTCTCC	ENST00000368804.1	-	2	1516_1517	c.1517_1518insGGAGAGGCGCGAGCAGCA	c.(1516-1518)caa>caGGAGAGGCGCGAGCAGCAa	p.506_506Q>QERREQQ		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	506	9 X 28 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGCCTTAGTTGCTGCTCGCG	0.644																																																	0			1																																								150350800	SO:0001652	inframe_insertion	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.1500_1517dupGGAGAGGCGCGAGCAGCA	1.37:g.152084175_152084176insTGCTGCTCGCGCCTCTCC	ENSP00000357794:p.GluArgArgGluGlnGln506dup	Somatic		Capture	Illumina HiSeq	Phase_I	150350799	Q5VUI3	In_Frame_Ins	INS	ENST00000368804.1	37	CCDS41396.1																																																																																				TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
FMN2	56776	hgsc.bcm.edu	37	1	240370914	240370946	+	In_Frame_Del	DEL	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	-	rs199628038|rs193049501|rs562038978|rs141094573|rs4997328|rs4997329|rs188083977|rs145628188|rs71170718|rs371697625	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	GCCCCCTCTACCCGGAGCGGGAATACCTCCTCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENST00000319653.9	+	5	3032_3064	c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	c.(2800-2835)ctgccccctctacccggagcgggaatacctcctccg>ctg	p.PPLPGAGIPPP935del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	935	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.G1082R(1)|p.P1081P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TACTCCCTCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCCCTCTA	0.678																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|lung(1)	1								1432,2834		223,986,924						0.9	0.0		dbSNP_114	42	2115,6135		277,1561,2287	no	coding	FMN2	NM_020066.4		500,2547,3211	A1A1,A1R,RR		25.6364,33.5677,28.3397				3547,8969				238437569	SO:0001651	inframe_deletion	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2802_2834delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	1.37:g.240370914_240370946delGCCCCCTCTACCCGGAGCGGGAATACCTCCTCC	ENSP00000318884:p.Pro935_Pro945del	Somatic		Capture	Illumina HiSeq	Phase_I	238437537	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
OR2T4	127074	hgsc.bcm.edu	37	1	248524967	248524968	+	Frame_Shift_Del	DEL	AT	AT	-	rs200915140	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	AT	AT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr1:248524967_248524968delAT	ENST00000366475.1	+	1	85_86	c.85_86delAT	c.(85-87)atgfs	p.M29fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAACATCCAATGGCCAATATC	0.500																																																	0			1																																								246591591	SO:0001589	frameshift_variant	127074			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.85_86delAT	1.37:g.248524967_248524968delAT	ENSP00000355431:p.Met29fs	Somatic		Capture	Illumina HiSeq	Phase_I	246591590	Q6IEZ8	Frame_Shift_Del	DEL	ENST00000366475.1	37	CCDS31113.1																																																																																				OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696	
RBM43	375287	hgsc.bcm.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr2:152108088delT	ENST00000331426.5	-	4	557	c.406delA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388																																																	1	Deletion - Frameshift(1)	ovary(1)	2								67,49,4116		3,1,60,6,36,2010	81.0	90.0	87.0			4.3	0.8	2	dbSNP_134	89	115,71,8038		0,1,114,8,54,3935	no	codingComplex	RBM43	NM_198557.2		3,2,174,14,90,5945	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2617,2.741,2.4245			152108088	182,120,12154	2198	4292	6490	151816334	SO:0001589	frameshift_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.406delA	2.37:g.152108088delT	ENSP00000331211:p.Ile136fs	Somatic		Capture	Illumina HiSeq	Phase_I	151816334	B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	CCDS2191.1																																																																																				RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
USP19	10869	hgsc.bcm.edu	37	3	49146603	49146604	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr3:49146603_49146604insC	ENST00000398888.2	-	26	4062_4063	c.3744_3745insG	c.(3742-3747)tggcagfs	p.Q1249fs	USP19_ENST00000453664.1_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000398892.3_Frame_Shift_Ins_p.Q1289fs|USP19_ENST00000417901.1_Intron|USP19_ENST00000398898.2_Intron|USP19_ENST00000434032.2_Frame_Shift_Ins_p.Q1350fs	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1249					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCAGCTCCTGCCAAATCCGGG	0.678																																																	0			3																																								49121608	SO:0001589	frameshift_variant	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3745dupG	3.37:g.49146605_49146605dupC	ENSP00000381863:p.Gln1249fs	Somatic		Capture	Illumina HiSeq	Phase_I	49121607	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Frame_Shift_Ins	INS	ENST00000398888.2	37	CCDS43090.1																																																																																				USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677	
POU5F1	5460	hgsc.bcm.edu	37	6	31132578	31132580	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	GTT	GTT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr6:31132578_31132580delGTT	ENST00000259915.8	-	5	953_955	c.881_883delAAC	c.(880-885)caacga>cga	p.Q294del	POU5F1_ENST00000471529.2_In_Frame_Del_p.Q98del|POU5F1_ENST00000512818.1_In_Frame_Del_p.Q98del|POU5F1_ENST00000606567.1_In_Frame_Del_p.Q124del|POU5F1_ENST00000441888.3_In_Frame_Del_p.Q98del|POU5F1_ENST00000513407.1_In_Frame_Del_p.Q98del	NM_002701.4	NP_002692.2	Q01860	PO5F1_HUMAN	POU class 5 homeobox 1	294					anatomical structure morphogenesis (GO:0009653)|blastocyst development (GO:0001824)|BMP signaling pathway involved in heart induction (GO:0003130)|cardiac cell fate determination (GO:0060913)|cell fate commitment involved in formation of primary germ layer (GO:0060795)|endodermal cell fate specification (GO:0001714)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of gene silencing by miRNA (GO:0060965)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of asymmetric cell division (GO:0009786)|regulation of gene expression (GO:0010468)|regulation of heart induction by regulation of canonical Wnt signaling pathway (GO:0090081)|regulation of methylation-dependent chromatin silencing (GO:0090308)|regulation of transcription, DNA-templated (GO:0006355)|response to wounding (GO:0009611)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13					Dopamine(DB00988)|Norepinephrine(DB00368)	AAATCCTCTCGTTGTGCATAGTC	0.562			T	EWSR1	sarcoma																																			Dom	yes		6	6p21.31	5460	"""POU domain, class 5, transcription factor 1"""		M	0			6																																								31240559	SO:0001651	inframe_deletion	5460			Z11898	CCDS34391.1, CCDS47398.1, CCDS47398.2, CCDS75420.1	6p21.33	2011-06-20	2007-07-13		ENSG00000204531	ENSG00000204531		"""Homeoboxes / POU class"""	9221	protein-coding gene	gene with protein product		164177	"""POU domain class 5, transcription factor 1"""	OTF3		1408763	Standard	NM_002701		Approved	OCT3, Oct4, MGC22487	uc003nsv.3	Q01860	OTTHUMG00000031206	ENST00000259915.8:c.881_883delAAC	6.37:g.31132578_31132580delGTT	ENSP00000259915:p.Gln294del	Somatic		Capture	Illumina HiSeq	Phase_I	31240557	A6NCS1|A6NLL8|D2IYK4|P31359|Q15167|Q15168|Q16422|Q5STF3|Q5STF4	In_Frame_Del	DEL	ENST00000259915.8	37	CCDS34391.1																																																																																				POU5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076413.4	NM_002701	
ADARB2	105	hgsc.bcm.edu	37	10	1230859	1230859	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:1230859delC	ENST00000381312.1	-	9	2310	c.1985delG	c.(1984-1986)ggcfs	p.G662fs	ADARB2_ENST00000381310.3_Frame_Shift_Del_p.G171fs|ADARB2_ENST00000381305.1_Frame_Shift_Del_p.G64fs	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	662	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.G662fs*21(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCGGGATGGGCCCCCACAGCT	0.672																																																	1	Deletion - Frameshift(1)	breast(1)	10											44.0	40.0	42.0					10																	1230859		2203	4299	6502	1220859	SO:0001589	frameshift_variant	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1985delG	10.37:g.1230859delC	ENSP00000370713:p.Gly662fs	Somatic		Capture	Illumina HiSeq	Phase_I	1220859	B2RPJ5|Q5VUT6|Q5VW42	Frame_Shift_Del	DEL	ENST00000381312.1	37	CCDS7058.1																																																																																				ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373899.3_3'UTR|TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs	Somatic		Capture	Illumina HiSeq	Phase_I	59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
RIC8A	60626	hgsc.bcm.edu	37	11	209895	209897	+	In_Frame_Del	DEL	CCC	CCC	-	rs201633036|rs200641500|rs3832797|rs398102296|rs571957041	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	CCC	CCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:209895_209897delCCC	ENST00000526104.1	+	3	1965_1967	c.621_623delCCC	c.(619-624)aacccc>aac	p.P210del	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000332865.6_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000325207.5_In_Frame_Del_p.P210del|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000529614.2_5'Flank|RIC8A_ENST00000527696.1_In_Frame_Del_p.P204del			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	210					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAAGGGAACCCCCCACCCACG	0.601														2073	0.413938	0.2519	0.428	5008	,	,		21433	0.7629		0.327	False		,,,				2504	0.3528																0			11								1167,8,3089		173,0,821,4,0,1134						1.2	0.0		dbSNP_107	49	2820,12,5422		493,0,1834,6,0,1794	no	codingComplex	RIC8A	NM_021932.4		666,0,2655,10,0,2928	A1A1,A1A2,A1R,A2A2,A2R,RR		34.3106,27.5563,32.0099				3987,20,8511				199897	SO:0001651	inframe_deletion	60626			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.621_623delCCC	11.37:g.209898_209900delCCC	ENSP00000432008:p.Pro210del	Somatic		Capture	Illumina HiSeq	Phase_I	199895	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	In_Frame_Del	DEL	ENST00000526104.1	37																																																																																					RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	93	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				large_intestine(1)|lung(2)|skin(1)	4		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCTTGGAACCCCCACAGGAGCCACAGCCCCCCTTGGAGCCCCCACAGG	0.657																																																	0			11																																								1575778	SO:0001651	inframe_deletion	440021			AB126071	CCDS31331.1	11p15.5	2008-02-05				ENSG00000205867		"""Keratin associated proteins"""	23597	protein-coding gene	gene with protein product						15144888	Standard	NM_001004325		Approved	KRTAP5.2, KRTAP5-8	uc001ltv.3	Q701N4		ENST00000412090.1:c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	11.37:g.1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENSP00000400041:p.Gly103_Gly112del	Somatic		Capture	Illumina HiSeq	Phase_I	1575749	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325	
CELA1	1990	hgsc.bcm.edu	37	12	51723598	51723599	+	Frame_Shift_Ins	INS	-	-	G	rs398102298|rs76813052|rs17860363|rs75442020	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:51723598_51723599insG	ENST00000293636.1	-	7	668_669	c.628_629insC	c.(628-630)ctcfs	p.L210fs		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	210	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				exocrine pancreas development (GO:0031017)|inflammatory response (GO:0006954)|multicellular organism growth (GO:0035264)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas morphogenesis (GO:0061113)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.L210fs*24(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CAAGCAATGGAGGGGGCCCCCA	0.564													GGGGG|GGGGG|GGGGGG|insertion	729	0.145567	0.084	0.1772	5008	,	,		16900	0.0407		0.2863	False		,,,				2504	0.1697																1	Insertion - Frameshift(1)	ovary(1)	12								562,3700		35,492,1604						5.4	0.2		dbSNP_123	63	2566,5688		406,1754,1967	no	frameshift	CELA1	NM_001971.5		441,2246,3571	A1A1,A1R,RR		31.088,13.1863,24.992				3128,9388				50009866	SO:0001589	frameshift_variant	1990				CCDS8812.1	12q13	2012-10-02	2009-05-05	2009-05-05	ENSG00000139610	ENSG00000139610			3308	protein-coding gene	gene with protein product		130120	"""elastase 1, pancreatic"""	ELA1			Standard	NM_001971		Approved		uc001ryi.1	Q9UNI1	OTTHUMG00000167523	ENST00000293636.1:c.629dupC	12.37:g.51723603_51723603dupG	ENSP00000293636:p.Leu210fs	Somatic		Capture	Illumina HiSeq	Phase_I	50009865	Q5MLF0|Q6DJT0|Q6ISM6	Frame_Shift_Ins	INS	ENST00000293636.1	37	CCDS8812.1																																																																																				CELA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394901.1	NM_001971	
TMBIM4	51643	hgsc.bcm.edu	37	12	66531937	66531937	+	Frame_Shift_Del	DEL	A	A	-	rs199863727	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr12:66531937delA	ENST00000358230.3	-	7	640	c.520delT	c.(520-522)tatfs	p.Y174fs	TMBIM4_ENST00000539652.1_Intron|TMBIM4_ENST00000398033.4_Frame_Shift_Del_p.F158fs|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000556010.1_Intron|TMBIM4_ENST00000542724.1_Frame_Shift_Del_p.Y143fs|TMBIM4_ENST00000286424.7_Frame_Shift_Del_p.Y221fs	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	174					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATCTCACTATAAAAAAAAAAC	0.353																																																	0			12								30,27,3421		0,0,30,0,27,1682	40.0	38.0	38.0			6.2	0.1	12		41	61,77,7666		0,0,61,0,77,3764	no	codingComplex	TMBIM4	NM_016056.2		0,0,91,0,104,5446	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7683,1.6389,1.7284			66531937	91,104,11087	1806	4076	5882	64818204	SO:0001589	frameshift_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.520delT	12.37:g.66531937delA	ENSP00000350965:p.Tyr174fs	Somatic		Capture	Illumina HiSeq	Phase_I	64818204	Q542Z6|Q9UHY5|Q9Y3C2	Frame_Shift_Del	DEL	ENST00000358230.3	37	CCDS41805.1																																																																																				TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2	NM_016056	
ARHGAP5	394	hgsc.bcm.edu	37	14	32560989	32561009	+	In_Frame_Del	DEL	GCAGATTTCCAGTTATGTTTT	GCAGATTTCCAGTTATGTTTT	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	GCAGATTTCCAGTTATGTTTT	GCAGATTTCCAGTTATGTTTT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr14:32560989_32561009delGCAGATTTCCAGTTATGTTTT	ENST00000345122.3	+	2	1429_1449	c.1114_1134delGCAGATTTCCAGTTATGTTTT	c.(1114-1134)gcagatttccagttatgttttdel	p.ADFQLCF372del	ARHGAP5_ENST00000539826.2_In_Frame_Del_p.ADFQLCF372del|ARHGAP5_ENST00000556611.1_In_Frame_Del_p.ADFQLCF372del|ARHGAP5_ENST00000432921.1_In_Frame_Del_p.ADFQLCF372del|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	372	FF 2.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.D373N(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		GGAAAAGAGAGCAGATTTCCAGTTATGTTTTGTGGTGCTAG	0.353																																					NSCLC(9;77 350 3443 29227 41353)												1	Substitution - Missense(1)	large_intestine(1)	14																																								31630760	SO:0001651	inframe_deletion	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1114_1134delGCAGATTTCCAGTTATGTTTT	14.37:g.32560989_32561009delGCAGATTTCCAGTTATGTTTT	ENSP00000371897:p.Ala372_Phe378del	Somatic		Capture	Illumina HiSeq	Phase_I	31630740	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	In_Frame_Del	DEL	ENST00000345122.3	37	CCDS32062.1																																																																																				ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	NM_001030055	
ATP8B4	79895	hgsc.bcm.edu	37	15	50273413	50273414	+	In_Frame_Ins	INS	-	-	GAG			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr15:50273413_50273414insGAG	ENST00000284509.6	-	11	967_968	c.826_827insCTC	c.(826-828)cta>cCTCta	p.275_276insP	ATP8B4_ENST00000559829.1_In_Frame_Ins_p.275_276insP|RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	275						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCATAGTACTAGAGTATTCATC	0.322																																																	0			15																																								48060706	SO:0001652	inframe_insertion	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.824_826dupCTC	15.37:g.50273414_50273416dupGAG	ENSP00000284509:p.Thr275_Leu276insPro	Somatic		Capture	Illumina HiSeq	Phase_I	48060705	Q9H727	In_Frame_Ins	INS	ENST00000284509.6	37	CCDS32238.1																																																																																				ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	DEL	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	AACCCCGAGGCCCTCAAGGGCTTCCACCCT	AACCCCGAGGCCCTCAAGGGCTTCCACCCT					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrUnknown:0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT								None (None upstream) : None (None downstream)																								0																																																	0			17																																								263631	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0delAACCCCGAGGCCCTCAAGGGCTTCCACCCT		Somatic		Capture	Illumina HiSeq	Phase_I	263602		Frame_Shift_Del	DEL		37																																																																																				0								
TMEM97	27346	hgsc.bcm.edu	37	17	26653807	26653807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr17:26653807delA	ENST00000226230.6	+	3	664	c.519delA	c.(517-519)agafs	p.R173fs	TMEM97_ENST00000583381.1_Frame_Shift_Del_p.R66fs|TMEM97_ENST00000336687.6_Frame_Shift_Del_p.R66fs	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	173					cholesterol homeostasis (GO:0042632)|regulation of cell growth (GO:0001558)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)		p.K176fs?(1)		endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AAGAGAAAAGAAAAAAAAAAT	0.438																																																	1	Deletion - Frameshift(1)	lung(1)	17								25,25,4214		0,0,25,0,25,2082	59.0	56.0	57.0			2.6	1.0	17		58	45,41,8168		0,0,45,0,41,4041	no	codingComplex	TMEM97	NM_014573.2		0,0,70,0,66,6123	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0419,1.1726,1.0864			26653807	70,66,12382	2203	4300	6503	23677934	SO:0001589	frameshift_variant	27346			BC091504	CCDS11226.2	17q11.2	2014-01-28			ENSG00000109084	ENSG00000109084			28106	protein-coding gene	gene with protein product		612912				7694637, 15375745	Standard	NM_014573		Approved	MAC30	uc002hat.3	Q5BJF2	OTTHUMG00000132497	ENST00000226230.6:c.519delA	17.37:g.26653807delA	ENSP00000226230:p.Arg173fs	Somatic		Capture	Illumina HiSeq	Phase_I	23677934	B4DS02|Q07823	Frame_Shift_Del	DEL	ENST00000226230.6	37	CCDS11226.2																																																																																				TMEM97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255675.2	NM_014573	
ZNF233	353355	hgsc.bcm.edu	37	19	44778796	44778796	+	Frame_Shift_Del	DEL	G	G	-	rs386809644|rs59660444|rs75921463|rs386809645	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:44778796delG	ENST00000391958.2	+	5	2110	c.1983delG	c.(1981-1983)tcgfs	p.S661fs	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Frame_Shift_Del_p.S643fs|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	661					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GTAAGAGTTCGTTGTCTTCAG	0.418													?|G|-|unsure	1594	0.318291	0.6536	0.3372	5008	,	,		19999	0.2579		0.1322	False		,,,				2504	0.1053																0			19											39.0	73.0	61.0					19																	44778796		2094	4294	6388	49470636	SO:0001589	frameshift_variant	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1983delG	19.37:g.44778796delG	ENSP00000375820:p.Ser661fs	Somatic		Capture	Illumina HiSeq	Phase_I	49470636	B2RN78|B2RN79|Q86WL8	Frame_Shift_Del	DEL	ENST00000391958.2	37	CCDS33047.1																																																																																				ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1	NM_181756	
ZNF787	126208	hgsc.bcm.edu	37	19	56599438	56599440	+	In_Frame_Del	DEL	TCG	TCG	-	rs5828672|rs71696054	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	TCG	TCG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr19:56599438_56599440delTCG	ENST00000270459.3	-	3	1219_1221	c.1101_1103delCGA	c.(1099-1104)gacgag>gag	p.D367del		NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		GCCCGCGGCCTCGTCGTCGTCGT	0.778														4509	0.900359	0.9939	0.732	5008	,	,		3238	0.7252		0.9821	False		,,,				2504	0.9898																0			19																																								61291252	SO:0001651	inframe_deletion	126208			BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.1101_1103delCGA	19.37:g.56599447_56599449delTCG	ENSP00000270459:p.Asp367del	Somatic		Capture	Illumina HiSeq	Phase_I	61291250	O00455	In_Frame_Del	DEL	ENST00000270459.3	37	CCDS42634.1																																																																																				ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs	Somatic		Capture	Illumina HiSeq	Phase_I	74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
BAIAP2L2	80115	hgsc.bcm.edu	37	22	38482353	38482394	+	In_Frame_Del	DEL	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	-	rs371997714|rs66500630|rs113792005|rs376182024|rs541462698|rs369923129|rs553799224	byFrequency	TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	TGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chr22:38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENST00000381669.3	-	12	1466_1507	c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	c.(1321-1365)atagcaccctcggagtactgggatggccagtcccgctcccgcacc>acc	p.IAPSEYWDGQSRSR441del	SLC16A8_ENST00000469516.1_5'Flank	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	441					filopodium assembly (GO:0046847)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|signal transduction (GO:0007165)	cell-cell contact zone (GO:0044291)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	phospholipid binding (GO:0005543)			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CGGCTTGGGGTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTATGGAGTTGCC	0.674														708	0.141374	0.0272	0.2291	5008	,	,		20774	0.0565		0.1918	False		,,,				2504	0.2689																0			22								138,3818		23,92,1863						2.2	0.8		dbSNP_130	20	1131,6525		291,549,2988	no	coding	BAIAP2L2	NM_025045.4		314,641,4851	A1A1,A1R,RR		14.7727,3.4884,10.9283				1269,10343				36812340	SO:0001651	inframe_deletion	80115			BC015619	CCDS43018.1	22q13.1	2005-02-09			ENSG00000128298	ENSG00000128298			26203	protein-coding gene	gene with protein product							Standard	NM_025045		Approved	FLJ22582	uc003auw.3	Q6UXY1	OTTHUMG00000151197	ENST00000381669.3:c.1322_1363delTAGCACCCTCGGAGTACTGGGATGGCCAGTCCCGCTCCCGCA	22.37:g.38482353_38482394delTGCGGGAGCGGGACTGGCCATCCCAGTACTCCGAGGGTGCTA	ENSP00000371085:p.Ile441_Arg454del	Somatic		Capture	Illumina HiSeq	Phase_I	36812299	B0QYE2|Q96BG7	In_Frame_Del	DEL	ENST00000381669.3	37	CCDS43018.1																																																																																				BAIAP2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321727.1	NM_025045	
VCX3B	425054	hgsc.bcm.edu	37	X	8434287	8434316	+	In_Frame_Del	DEL	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA	-	rs377669206|rs369681806|rs374799202		TCGA-DY-A1DG-01A-11D-A152-10	TCGA-DY-A1DG-10A-01D-A152-10	GAACCACTGAGTCAGGAGAGCGAGATGGAA	GAACCACTGAGTCAGGAGAGCGAGATGGAA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	06466ebf-1edd-4444-9c9e-f66389499b4f	26850a7c-1c9b-4697-9aeb-b609afb454d9	g.chrX:8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENST00000381032.1	+	3	911_940	c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	c.(604-633)gaaccactgagtcaggagagcgagatggaadel	p.EPLSQESEME202del	VCX3B_ENST00000440654.2_In_Frame_Del_p.EPLSQESEME152del|VCX3B_ENST00000453306.1_Intron|VCX3B_ENST00000444481.1_In_Frame_Del_p.EPLSQESEME172del|VCX3B_ENST00000381029.4_In_Frame_Del_p.EPLSQESEME170del	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	202	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)		p.M180V(2)		NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CCAGGTGGAGGAACCACTGAGTCAGGAGAGCGAGATGGAAGAACCACTGA	0.565																																																	2	Substitution - Missense(2)	prostate(1)|skin(1)	X																																								8394316	SO:0001651	inframe_deletion	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.604_633delGAACCACTGAGTCAGGAGAGCGAGATGGAA	X.37:g.8434287_8434316delGAACCACTGAGTCAGGAGAGCGAGATGGAA	ENSP00000370420:p.Glu202_Glu211del	Somatic		Capture	Illumina HiSeq	Phase_I	8394287	C9JS46|Q4KN12	In_Frame_Del	DEL	ENST00000381032.1	37	CCDS48077.2																																																																																				VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055691.1		
