#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_ORegAnno_bin	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_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
SFRP4	6424	hgsc.bcm.edu	37	7	37947203	37947203	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:37947203G>A	ENST00000436072.2	-	6	1296	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	307	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGACTGGTGCGCCCGGCTGTT	0.493																																																	0			7											120.0	119.0	119.0					7																	37947203		2203	4300	6503	37913728	SO:0001583	missense	6424			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.919C>T	7.37:g.37947203G>A	ENSP00000410715:p.Arg307Cys		37913728	B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	ENST00000436072.2	37	CCDS5453.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.150897	0.78001	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.68331	-0.32	5.83	5.83	0.93111	Netrin domain (1);	0.000000	0.56097	D	0.000029	T	0.67942	0.2947	N	0.24115	0.695	0.54753	D	0.999985	D	0.89917	1.0	P	0.59221	0.854	T	0.71454	-0.4588	10	0.87932	D	0	.	14.4157	0.67148	0.0:0.0:0.8518:0.1481	.	307	Q6FHJ7	SFRP4_HUMAN	C	307;304	ENSP00000410715:R307C	ENSP00000410715:R307C	R	-	1	0	SFRP4	37913728	1.000000	0.71417	0.991000	0.47740	0.896000	0.52359	4.503000	0.60407	2.753000	0.94483	0.650000	0.86243	CGC		0.493	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220017.2	NM_003014	
Unknown	0	hgsc.bcm.edu	37	7	63680313	63680313	+	IGR	SNP	G	G	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:63680313G>T								GUSBP6 (69214 upstream) : ZNF679 (8538 downstream)																							ACTGGAGAGAGACCCTACAAA	0.448																																																	0			7											13.0	14.0	14.0					7																	63680313		692	1590	2282	63317748	SO:0001628	intergenic_variant	730291																															7.37:g.63680313G>T			63317748		Missense_Mutation	SNP		37																																																																																				0	0.448								
TMEM248	55069	hgsc.bcm.edu	37	7	66409968	66409968	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:66409968G>A	ENST00000341567.4	+	3	420	c.165G>A	c.(163-165)tgG>tgA	p.W55*		NM_017994.4	NP_060464.1	Q9NWD8	TM248_HUMAN	transmembrane protein 248	55						integral component of membrane (GO:0016021)											CAAAGGATTGGAATACTTTTC	0.473																																																	0			7											83.0	72.0	76.0					7																	66409968		2203	4300	6503	66047403	SO:0001587	stop_gained	55069				CCDS5536.1	7q11.21	2012-05-30	2012-05-30	2012-05-30	ENSG00000106609	ENSG00000106609			25476	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 42"""	C7orf42		12477932	Standard	XM_005250482		Approved	FLJ10099, FLJ13090	uc003tvk.3	Q9NWD8	OTTHUMG00000129553	ENST00000341567.4:c.165G>A	7.37:g.66409968G>A	ENSP00000340668:p.Trp55*		66047403	Q53H07|Q96FR2	Nonsense_Mutation	SNP	ENST00000341567.4	37	CCDS5536.1	.	.	.	.	.	.	.	.	.	.	G	36	5.884498	0.97062	.	.	ENSG00000106609	ENST00000341567;ENST00000413593;ENST00000424964;ENST00000418375	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8932	18.2626	0.90041	0.0:0.0:1.0:0.0	.	.	.	.	X	55	.	ENSP00000340668:W55X	W	+	3	0	C7orf42	66047403	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	9.324000	0.96373	2.569000	0.86673	0.561000	0.74099	TGG		0.473	TMEM248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251745.2	NM_017994	
BCAP29	55973	hgsc.bcm.edu	37	7	107258785	107258785	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:107258785A>G	ENST00000005259.4	+	8	1042	c.703A>G	c.(703-705)Aga>Gga	p.R235G	BCAP29_ENST00000379117.2_Missense_Mutation_p.R235G|BCAP29_ENST00000465919.1_Missense_Mutation_p.R141G|BCAP29_ENST00000445771.2_Missense_Mutation_p.K261R|BCAP29_ENST00000379119.2_Missense_Mutation_p.K261R|BCAP29_ENST00000494086.1_3'UTR	NM_018844.3	NP_061332.2	Q9UHQ4	BAP29_HUMAN	B-cell receptor-associated protein 29	235					apoptotic process (GO:0006915)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|osteoblast differentiation (GO:0001649)|protein localization to endoplasmic reticulum exit site (GO:0070973)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	14						TCGTTTAGAAAGAGGCAACAA	0.299																																																	0			7											52.0	57.0	56.0					7																	107258785		2203	4293	6496	107046021	SO:0001583	missense	55973				CCDS34730.1, CCDS34731.1	7q22.3	2012-09-20			ENSG00000075790	ENSG00000075790			24131	protein-coding gene	gene with protein product						12477932	Standard	NM_018844		Approved	BAP29, DKFZp686M2086	uc011kma.1	Q9UHQ4	OTTHUMG00000154770	ENST00000005259.4:c.703A>G	7.37:g.107258785A>G	ENSP00000005259:p.Arg235Gly		107046021	G5E9L4|O95003	Missense_Mutation	SNP	ENST00000005259.4	37	CCDS34731.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.92|12.92	2.082220|2.082220	0.36758|0.36758	.|.	.|.	ENSG00000075790|ENSG00000075790	ENST00000445771;ENST00000379119|ENST00000005259;ENST00000465919;ENST00000379117	.|.	.|.	.|.	4.71|4.71	3.54|3.54	0.40534|0.40534	.|.	2.034270|.	0.02970|.	N|.	0.144229|.	T|T	0.17408|0.17408	0.0418|0.0418	N|N	0.11064|0.11064	0.09|0.09	0.09310|0.09310	N|N	0.999994|0.999994	P|B	0.37330|0.02656	0.59|0.0	B|B	0.33690|0.01281	0.168|0.0	T|T	0.27905|0.27905	-1.0060|-1.0060	9|8	0.87932|0.10111	D|T	0|0.7	.|.	8.3442|8.3442	0.32263|0.32263	0.8:0.2:0.0:0.0|0.8:0.2:0.0:0.0	.|.	261|235	G5E9L4|Q9UHQ4	.|BAP29_HUMAN	R|G	261|235;141;235	.|.	ENSP00000368414:K261R|ENSP00000005259:R235G	K|R	+|+	2|1	0|2	BCAP29|BCAP29	107046021|107046021	0.427000|0.427000	0.25514|0.25514	0.004000|0.004000	0.12327|0.12327	0.379000|0.379000	0.30106|0.30106	1.896000|1.896000	0.39789|0.39789	0.824000|0.824000	0.34613|0.34613	0.482000|0.482000	0.46254|0.46254	AAG|AGA		0.299	BCAP29-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337011.2	NM_018844	
DOCK4	9732	hgsc.bcm.edu	37	7	111484842	111484842	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:111484842G>A	ENST00000437633.1	-	25	2969	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	DOCK4_ENST00000428084.1_Missense_Mutation_p.R905W	NM_014705.3	NP_055520.3	Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	905					cell chemotaxis (GO:0060326)|positive regulation of Rac GTPase activity (GO:0032855)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|stereocilium (GO:0032420)|stereocilium bundle (GO:0032421)	guanyl-nucleotide exchange factor activity (GO:0005085)|PDZ domain binding (GO:0030165)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AACTGGAACCGCATTGCTGAG	0.512																																																	0			7											160.0	158.0	159.0					7																	111484842		2049	4201	6250	111272078	SO:0001583	missense	9732				CCDS47688.1	7q31.1	2007-08-07			ENSG00000128512	ENSG00000128512			19192	protein-coding gene	gene with protein product		607679				12432077, 12628187	Standard	XM_006716188		Approved	FLJ34238, KIAA0716	uc003vfx.3	Q8N1I0	OTTHUMG00000155077	ENST00000437633.1:c.2713C>T	7.37:g.111484842G>A	ENSP00000404179:p.Arg905Trp		111272078	O14584|O94824|Q8NB45	Missense_Mutation	SNP	ENST00000437633.1	37	CCDS47688.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.086388	0.76642	.	.	ENSG00000128512	ENST00000352877;ENST00000428084;ENST00000437633;ENST00000342288;ENST00000544250	T;T	0.72505	-0.66;-0.66	6.12	2.96	0.34315	.	0.000000	0.85682	D	0.000000	T	0.81749	0.4888	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;P;P	0.68765	0.96;0.735;0.784	D	0.84261	0.0483	10	0.62326	D	0.03	.	16.8359	0.85957	0.0:0.0:0.5766:0.4234	.	905;905;905	Q149N5;Q8N1I0;Q8N1I0-2	.;DOCK4_HUMAN;.	W	893;905;905;893;904	ENSP00000410746:R905W;ENSP00000404179:R905W	ENSP00000345432:R893W	R	-	1	2	DOCK4	111272078	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	1.935000	0.40173	0.871000	0.35750	0.644000	0.83932	CGG		0.512	DOCK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338369.4	NM_014705	
POT1	25913	hgsc.bcm.edu	37	7	124467279	124467279	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:124467279G>A	ENST00000357628.3	-	17	2273	c.1675C>T	c.(1675-1677)Ctc>Ttc	p.L559F	POT1_ENST00000393329.1_Missense_Mutation_p.L428F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	559					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GAATCCATGAGATAGGCTTCT	0.303																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0			7											72.0	70.0	71.0					7																	124467279		2203	4300	6503	124254515	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.1675C>T	7.37:g.124467279G>A	ENSP00000350249:p.Leu559Phe		124254515	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	ENST00000357628.3	37	CCDS5793.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.79|18.79	3.698721|3.698721	0.68501|0.68501	.|.	.|.	ENSG00000128513|ENSG00000128513	ENST00000357628;ENST00000393329|ENST00000436534	T;T|.	0.66638|.	-0.22;0.22|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77685|0.77685	0.4167|0.4167	M|M	0.80183|0.80183	2.485|2.485	0.51482|0.51482	D|D	0.999928|0.999928	D|.	0.89917|.	1.0|.	D|.	0.85130|.	0.997|.	T|T	0.78523|0.78523	-0.2171|-0.2171	10|5	0.87932|.	D|.	0|.	-3.8836|-3.8836	16.7379|16.7379	0.85452|0.85452	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	559|.	Q9NUX5|.	POTE1_HUMAN|.	F|F	559;428|57	ENSP00000350249:L559F;ENSP00000377002:L428F|.	ENSP00000350249:L559F|.	L|S	-|-	1|2	0|0	POT1|POT1	124254515|124254515	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.731000|0.731000	0.41821|0.41821	6.346000|6.346000	0.72999|0.72999	2.548000|2.548000	0.85928|0.85928	0.655000|0.655000	0.94253|0.94253	CTC|TCT		0.303	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347861.1		
TNPO3	23534	hgsc.bcm.edu	37	7	128633897	128633897	+	Silent	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:128633897C>T	ENST00000265388.5	-	9	1373	c.1230G>A	c.(1228-1230)ttG>ttA	p.L410L	TNPO3_ENST00000482320.1_Silent_p.L344L|TNPO3_ENST00000471166.1_Silent_p.L410L|TNPO3_ENST00000393245.1_Silent_p.L410L|TNPO3_ENST00000471234.1_Silent_p.L410L			Q9Y5L0	TNPO3_HUMAN	transportin 3	410					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TCAAGAAAATCAAGTCCTTTA	0.413																																					Pancreas(147;583 2585 39696 52331)												0			7											118.0	109.0	112.0					7																	128633897		2203	4300	6503	128421133	SO:0001819	synonymous_variant	23534			AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.1230G>A	7.37:g.128633897C>T			128421133	A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Silent	SNP	ENST00000265388.5	37	CCDS5809.1																																																																																				0.413	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470	
BRAF	673	hgsc.bcm.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	7											112.0	104.0	107.0					7																	140453136		2203	4300	6503	140099605	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		140099605	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
LRRC16B	90668	hgsc.bcm.edu	37	14	24529216	24529216	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr14:24529216G>A	ENST00000342740.5	+	23	2060	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	636						cytoplasm (GO:0005737)				breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCCGTGAGCGACATCTCCCA	0.652																																																	0			14											152.0	130.0	138.0					14																	24529216		2203	4300	6503	23599056	SO:0001583	missense	90668			AI017934	CCDS32054.1	14q11.2-q12	2010-09-10	2008-02-12	2008-02-12					20272	protein-coding gene	gene with protein product		614716	"""chromosome 14 open reading frame 121"""	C14orf121		19846667	Standard	NM_138360		Approved	BC008134, crml-1, CARMIL3	uc001wlj.2	Q8ND23		ENST00000342740.5:c.1906G>A	14.37:g.24529216G>A	ENSP00000340467:p.Asp636Asn		23599056	Q8TEF7|Q96HS9	Missense_Mutation	SNP	ENST00000342740.5	37	CCDS32054.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444161	0.83993	.	.	ENSG00000186648	ENST00000342740	T	0.61274	0.12	4.52	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.76574	2.34	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.77686	-0.2495	10	0.62326	D	0.03	-13.6603	14.7808	0.69766	0.0:0.0:1.0:0.0	.	636	Q8ND23	LR16B_HUMAN	N	636	ENSP00000340467:D636N	ENSP00000340467:D636N	D	+	1	0	LRRC16B	23599056	1.000000	0.71417	0.996000	0.52242	0.950000	0.60333	6.001000	0.70685	2.331000	0.79229	0.561000	0.74099	GAC		0.652	LRRC16B-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416527.1	NM_138360	
TRMT5	57570	hgsc.bcm.edu	37	14	61442484	61442484	+	Missense_Mutation	SNP	C	C	T	rs549009711		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr14:61442484C>T	ENST00000261249.6	-	4	1537	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	RP11-193F5.1_ENST00000553946.1_RNA|RNU6-398P_ENST00000384143.1_RNA	NM_020810.2	NP_065861.2			tRNA methyltransferase 5									p.V385I(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		AAGTTCATGACAACGTGCACA	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20734	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	central_nervous_system(1)	14											93.0	91.0	92.0					14																	61442484		2203	4300	6503	60512237	SO:0001583	missense	57570			AB037814	CCDS32092.1	14q23.1	2013-06-05	2013-06-05	2005-08-11		ENSG00000126814	2.1.1.228		23141	protein-coding gene	gene with protein product	"""tRNA (guanine(37)-N1)-methyltransferase"""	611023	"""KIAA1393"", ""tRNA methyltransferase 5 homolog (S. cerevisiae)"""	KIAA1393		15248782	Standard	XM_005267916		Approved	TRM5	uc001xff.4	Q32P41		ENST00000261249.6:c.1153G>A	14.37:g.61442484C>T	ENSP00000261249:p.Val385Ile		60512237		Missense_Mutation	SNP	ENST00000261249.6	37	CCDS32092.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933878	0.52866	.	.	ENSG00000126814	ENST00000261249	T	0.23147	1.92	6.17	4.38	0.52667	.	0.110226	0.64402	N	0.000008	T	0.15565	0.0375	N	0.16016	0.355	0.48571	D	0.999679	B	0.12013	0.005	B	0.22880	0.042	T	0.06023	-1.0850	10	0.17369	T	0.5	-6.5099	12.8575	0.57894	0.0:0.8698:0.0:0.1302	.	385	Q32P41	TRM5_HUMAN	I	385	ENSP00000261249:V385I	ENSP00000261249:V385I	V	-	1	0	TRMT5	60512237	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.661000	0.61518	0.955000	0.37878	-0.136000	0.14681	GTC		0.458	TRMT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412831.1	NM_02081	
EXD2	55218	hgsc.bcm.edu	37	14	69695623	69695623	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr14:69695623A>G	ENST00000409018.3	+	3	552	c.424A>G	c.(424-426)Atc>Gtc	p.I142V	EXD2_ENST00000409014.1_Missense_Mutation_p.I17V|EXD2_ENST00000449989.1_Missense_Mutation_p.I17V|EXD2_ENST00000409242.1_Missense_Mutation_p.I17V|EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000312994.5_Missense_Mutation_p.I142V|EXD2_ENST00000409949.1_Missense_Mutation_p.I17V|EXD2_ENST00000409675.1_Missense_Mutation_p.I17V	NM_001193361.1	NP_001180290.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	142							3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GCCCAAGCTAATCTGTGGAGG	0.483																																																	0			14											109.0	103.0	105.0					14																	69695623		2203	4300	6503	68765376	SO:0001583	missense	55218			AK001600	CCDS9793.1, CCDS53902.1	14q24.1	2009-02-24	2009-02-24	2009-02-24	ENSG00000081177	ENSG00000081177			20217	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 114"", ""exonuclease 3'-5' domain-like 2"""	C14orf114, EXDL2			Standard	NM_018199		Approved	FLJ10738	uc001xkv.3	Q9NVH0	OTTHUMG00000154496	ENST00000409018.3:c.424A>G	14.37:g.69695623A>G	ENSP00000387331:p.Ile142Val		68765376	B4DIH6|G5E947|Q6AWB6|Q8N3D3	Missense_Mutation	SNP	ENST00000409018.3	37	CCDS53902.1	.	.	.	.	.	.	.	.	.	.	A	1.636	-0.517711	0.04171	.	.	ENSG00000081177	ENST00000409018;ENST00000193422;ENST00000409014;ENST00000409675;ENST00000409949;ENST00000409242;ENST00000312994;ENST00000413191;ENST00000449989	T;T;T;T;T;T;T;T	0.62941	-0.01;0.06;0.06;0.06;0.06;-0.01;0.06;0.06	5.74	2.21	0.28008	Ribonuclease H-like (1);	0.564835	0.21759	N	0.069553	T	0.32763	0.0840	N	0.08118	0	0.24745	N	0.993019	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.25293	-1.0136	10	0.02654	T	1	-0.8965	8.8378	0.35123	0.7049:0.0:0.2951:0.0	.	142;17	G5E947;Q9NVH0	.;EXD2_HUMAN	V	142;142;17;17;17;17;142;17;17	ENSP00000387331:I142V;ENSP00000386915:I17V;ENSP00000386762:I17V;ENSP00000386632:I17V;ENSP00000386839:I17V;ENSP00000313140:I142V;ENSP00000409089:I17V;ENSP00000392177:I17V	ENSP00000193422:I142V	I	+	1	0	EXD2	68765376	0.994000	0.37717	0.993000	0.49108	0.842000	0.47809	2.077000	0.41557	0.466000	0.27193	0.460000	0.39030	ATC		0.483	EXD2-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000335504.1		
TSHR	7253	hgsc.bcm.edu	37	14	81610398	81610398	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr14:81610398T>C	ENST00000541158.2	+	11	2318	c.1996T>C	c.(1996-1998)Ttc>Ctc	p.F666L	TSHR_ENST00000298171.2_Missense_Mutation_p.F666L|RP11-114N19.3_ENST00000557775.1_RNA			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	666					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)	p.F666L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCTGGTACTCTTCTATCCACT	0.453			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism																																yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	1	Substitution - Missense(1)	thyroid(1)	14											187.0	184.0	185.0					14																	81610398		2203	4300	6503	80680151	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1996T>C	14.37:g.81610398T>C	ENSP00000441235:p.Phe666Leu		80680151	A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220933	0.79464	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.94687	-3.49;-3.49	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.97084	0.9047	M	0.80746	2.51	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.97796	1.0241	10	0.87932	D	0	.	14.8175	0.70045	0.0:0.0:0.0:1.0	.	666	F5GYU5	.	L	666;313;666	ENSP00000441235:F666L;ENSP00000298171:F666L	ENSP00000298171:F666L	F	+	1	0	TSHR	80680151	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	8.040000	0.89188	1.906000	0.55180	0.459000	0.35465	TTC		0.453	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369	
OR7C1	26664	hgsc.bcm.edu	37	19	14910336	14910336	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:14910336C>T	ENST00000248073.2	-	1	687	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	205					spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						ACACCCAGGACGCCAGTTGCA	0.393																																																	0			19											68.0	69.0	69.0					19																	14910336		2203	4300	6503	14771336	SO:0001583	missense	26664			X89676	CCDS12317.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8373	protein-coding gene	gene with protein product				OR7C4			Standard	NM_198944		Approved	OR19-5	uc010xnz.2	O76099		ENST00000248073.2:c.613G>A	19.37:g.14910336C>T	ENSP00000248073:p.Val205Ile		14771336	Q15621|Q6IFP2|Q96R94	Missense_Mutation	SNP	ENST00000248073.2	37	CCDS12317.1	.	.	.	.	.	.	.	.	.	.	c	5.029	0.191024	0.09547	.	.	ENSG00000127530	ENST00000248073	T	0.37058	1.22	3.55	-5.04	0.02964	GPCR, rhodopsin-like superfamily (1);	1.048770	0.07733	U	0.945483	T	0.11750	0.0286	N	0.03253	-0.375	0.09310	N	1	B	0.17268	0.021	B	0.18263	0.021	T	0.17319	-1.0373	10	0.30854	T	0.27	.	0.4666	0.00525	0.2686:0.3149:0.1971:0.2194	.	205	O76099	OR7C1_HUMAN	I	205	ENSP00000248073:V205I	ENSP00000248073:V205I	V	-	1	0	OR7C1	14771336	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-10.568000	0.00006	-1.040000	0.03271	-3.246000	0.00050	GTC		0.393	OR7C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466519.1		
KIAA1683	80726	hgsc.bcm.edu	37	19	18378120	18378120	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:18378120C>T	ENST00000600328.3	-	3	423	c.230G>A	c.(229-231)cGc>cAc	p.R77H	KIAA1683_ENST00000392413.4_Missense_Mutation_p.R77H|KIAA1683_ENST00000600359.3_Missense_Mutation_p.R31H			Q9H0B3	K1683_HUMAN	KIAA1683	77						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGGGACGCGGCGGGACGCCGT	0.632																																																	0			19											60.0	62.0	61.0					19																	18378120		2203	4299	6502	18239120	SO:0001583	missense	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.230G>A	19.37:g.18378120C>T	ENSP00000470780:p.Arg77His		18239120	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Missense_Mutation	SNP	ENST00000600328.3	37	CCDS32958.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983092	0.34942	.	.	ENSG00000130518	ENST00000392413;ENST00000359737;ENST00000427634;ENST00000358422;ENST00000411671	T;T;T	0.03663	3.93;3.94;3.85	1.41	-2.83	0.05769	.	.	.	.	.	T	0.01800	0.0057	N	0.20986	0.625	0.09310	N	1	P;B	0.37864	0.61;0.025	B;B	0.21917	0.037;0.003	T	0.41520	-0.9504	9	0.48119	T	0.1	-0.2358	2.8698	0.05613	0.0:0.4068:0.2415:0.3517	.	77;77	E9PDE0;Q9H0B3	.;K1683_HUMAN	H	77;77;31;76;77	ENSP00000376213:R77H;ENSP00000352774:R77H;ENSP00000404501:R31H	ENSP00000351198:R76H	R	-	2	0	KIAA1683	18239120	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-4.719000	0.00194	-0.765000	0.04645	0.313000	0.20887	CGC		0.632	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
LSR	51599	hgsc.bcm.edu	37	19	35741411	35741411	+	Silent	SNP	C	C	T	rs542223511		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:35741411C>T	ENST00000361790.3	+	2	606	c.447C>T	c.(445-447)ctC>ctT	p.L149L	LSR_ENST00000347609.4_Silent_p.L112L|LSR_ENST00000427250.1_Silent_p.L101L|AC002128.5_ENST00000604161.1_RNA|LSR_ENST00000354900.3_Silent_p.L149L|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Silent_p.L149L|LSR_ENST00000602122.1_Silent_p.L149L	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	149	Ig-like V-type.				embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACAACCAGCTCAATGCCCAGC	0.647																																																	0			19											93.0	85.0	88.0					19																	35741411		2203	4300	6503	40433251	SO:0001819	synonymous_variant	51599			AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.447C>T	19.37:g.35741411C>T			40433251	A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	CCDS12450.1																																																																																				0.647	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925	
ZBTB32	27033	hgsc.bcm.edu	37	19	36206338	36206338	+	Silent	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:36206338C>T	ENST00000392197.2	+	3	1128	c.810C>T	c.(808-810)ccC>ccT	p.P270P	ZBTB32_ENST00000262630.3_Silent_p.P270P|KMT2B_ENST00000420124.1_5'Flank|KMT2B_ENST00000341701.1_5'Flank|KMT2B_ENST00000222270.7_5'Flank|KMT2B_ENST00000607650.1_RNA			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	270					DNA repair (GO:0006281)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of cytokine production (GO:0001817)|T cell proliferation (GO:0042098)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGATGCCGCCCAGATATGGCA	0.657																																																	0			19											45.0	48.0	47.0					19																	36206338		2196	4293	6489	40898178	SO:0001819	synonymous_variant	27033			AF130255	CCDS12471.1	19q13.1	2013-01-08			ENSG00000011590	ENSG00000011590		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16763	protein-coding gene	gene with protein product	"""repressor of GATA"""	605859				10572087	Standard	XM_005258739		Approved	TZFP, FAZF, FAXF, Rog, ZNF538	uc002oay.3	Q9Y2Y4	OTTHUMG00000048118	ENST00000392197.2:c.810C>T	19.37:g.36206338C>T			40898178	Q8WVP2	Silent	SNP	ENST00000392197.2	37	CCDS12471.1																																																																																				0.657	ZBTB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109491.3	NM_014383	
SHANK1	50944	hgsc.bcm.edu	37	19	51169858	51169858	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:51169858C>T	ENST00000293441.1	-	22	5377	c.5359G>A	c.(5359-5361)Gtc>Atc	p.V1787I	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000391814.1_Missense_Mutation_p.V1795I|SHANK1_ENST00000359082.3_Missense_Mutation_p.V1778I|SHANK1_ENST00000391813.1_Missense_Mutation_p.V1174I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1787					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTCACCGAGACGGTGGGGCTG	0.731																																																	0			19											5.0	7.0	6.0					19																	51169858		1697	3618	5315	55861670	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5359G>A	19.37:g.51169858C>T	ENSP00000293441:p.Val1787Ile		55861670	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	8.485	0.860754	0.17178	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36699	1.36;1.81;1.34;1.24	2.35	2.35	0.29111	.	1.651660	0.04151	U	0.321216	T	0.19805	0.0476	N	0.25647	0.755	0.24597	N	0.993792	B;P	0.36125	0.251;0.538	B;B	0.25506	0.008;0.061	T	0.15607	-1.0431	10	0.09338	T	0.73	.	5.0721	0.14611	0.0:0.8246:0.0:0.1754	.	1787;1174	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	I	1787;1174;1778;1795	ENSP00000293441:V1787I;ENSP00000375689:V1174I;ENSP00000351984:V1778I;ENSP00000375690:V1795I	ENSP00000293441:V1787I	V	-	1	0	SHANK1	55861670	0.740000	0.28207	0.720000	0.30636	0.719000	0.41307	0.999000	0.29757	1.334000	0.45468	0.195000	0.17529	GTC		0.731	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148	
VN1R4	317703	hgsc.bcm.edu	37	19	53770600	53770600	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:53770600T>C	ENST00000311170.4	-	1	372	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	107					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTGACCGTGATCACCTGGAAG	0.498										HNSCC(26;0.072)																																							0			19											34.0	27.0	29.0					19																	53770600		2203	4299	6502	58462412	SO:0001583	missense	317703			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.319A>G	19.37:g.53770600T>C	ENSP00000310856:p.Ile107Val		58462412	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	ENST00000311170.4	37	CCDS33099.1	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562777	0.27915	.	.	ENSG00000228567	ENST00000311170	T	0.12672	2.66	2.28	2.28	0.28536	GPCR, rhodopsin-like superfamily (1);	0.472218	0.15777	N	0.245142	T	0.20007	0.0481	L	0.46947	1.48	0.09310	N	1	P	0.51147	0.942	P	0.54270	0.747	T	0.03296	-1.1051	10	0.46703	T	0.11	.	8.5532	0.33465	0.0:0.0:0.0:1.0	.	107	Q7Z5H5	VN1R4_HUMAN	V	107	ENSP00000310856:I107V	ENSP00000310856:I107V	I	-	1	0	VN1R4	58462412	0.001000	0.12720	0.641000	0.29422	0.465000	0.32709	0.099000	0.15210	1.312000	0.45043	0.445000	0.29226	ATC		0.498	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464287.1	NM_173857	
KIR3DL3	115653	hgsc.bcm.edu	37	19	55239243	55239243	+	Silent	SNP	G	G	A	rs201248696		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:55239243G>A	ENST00000291860.1	+	4	540	c.522G>A	c.(520-522)gcG>gcA	p.A174A	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	174	Ig-like C2-type 2. {ECO:0000305}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TCCACGATGCGGGTTCCCAGG	0.552																																																	0			19											101.0	85.0	91.0					19																	55239243		1978	3434	5412	59931055	SO:0001819	synonymous_variant	115653			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.522G>A	19.37:g.55239243G>A			59931055	A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Silent	SNP	ENST00000291860.1	37	CCDS12903.1																																																																																				0.552	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	NM_153443	
USP29	57663	hgsc.bcm.edu	37	19	57641404	57641404	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr19:57641404T>C	ENST00000254181.4	+	4	1815	c.1361T>C	c.(1360-1362)cTc>cCc	p.L454P	USP29_ENST00000598197.1_Missense_Mutation_p.L454P	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	454	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATAATTATCTCTCCATCAAC	0.368																																																	0			19											152.0	148.0	149.0					19																	57641404		2203	4300	6503	62333216	SO:0001583	missense	57663				CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.1361T>C	19.37:g.57641404T>C	ENSP00000254181:p.Leu454Pro		62333216		Missense_Mutation	SNP	ENST00000254181.4	37	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341590	0.41498	.	.	ENSG00000131864	ENST00000254181	D	0.81739	-1.53	2.65	2.65	0.31530	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.414201	0.14115	U	0.340477	D	0.89705	0.6792	M	0.88377	2.95	0.45676	D	0.998592	D	0.89917	1.0	D	0.85130	0.997	D	0.89253	0.3592	10	0.87932	D	0	-1.2109	9.1534	0.36978	0.0:0.0:0.0:1.0	.	454	Q9HBJ7	UBP29_HUMAN	P	454	ENSP00000254181:L454P	ENSP00000254181:L454P	L	+	2	0	USP29	62333216	0.978000	0.34361	0.457000	0.27056	0.616000	0.37450	2.577000	0.46042	1.439000	0.47511	0.477000	0.44152	CTC		0.368	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1		
CYHR1	50626	hgsc.bcm.edu	37	8	145689545	145689545	+	Intron	SNP	G	G	A	rs543509475		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr8:145689545G>A	ENST00000438911.2	-	2	380				CYHR1_ENST00000306145.5_Missense_Mutation_p.R182W|CYHR1_ENST00000530374.1_5'Flank|CTD-2517M22.16_ENST00000525461.1_RNA|KIFC2_ENST00000301332.2_5'Flank|CYHR1_ENST00000403000.2_Missense_Mutation_p.R182W|CYHR1_ENST00000424149.2_Missense_Mutation_p.R182W	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1							cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGCAGGGCCCGGCAGTAAGCC	0.647											OREG0019056	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17925	0.001		0.0	False		,,,				2504	0.0																0			8											45.0	50.0	48.0					8																	145689545		2202	4299	6501	145660353	SO:0001627	intron_variant	50626			AB007965	CCDS6426.1, CCDS47943.1	8q24	2004-12-07	2005-07-24		ENSG00000187954	ENSG00000187954			17806	protein-coding gene	gene with protein product			"""cysteine and histidine rich 1"""			10745073	Standard	NM_138496		Approved	CHRP, KIAA0496, MGC13010	uc003zcv.2	Q6ZMK1	OTTHUMG00000165171	ENST00000438911.2:c.246+297C>T	8.37:g.145689545G>A		1696	145660353	B3KSX0|D3DWM3|Q9BSF6|Q9BSU6	Missense_Mutation	SNP	ENST00000438911.2	37	CCDS47943.1	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873986	0.72180	.	.	ENSG00000187954	ENST00000403000;ENST00000424149;ENST00000306145	T;T;T	0.44881	0.91;0.91;0.91	4.79	-1.65	0.08291	.	0.511586	0.16788	N	0.199505	T	0.24547	0.0595	.	.	.	0.21184	N	0.999762	B	0.02656	0.0	B	0.01281	0.0	T	0.12477	-1.0546	9	0.54805	T	0.06	.	3.3555	0.07168	0.2385:0.0:0.2553:0.5062	.	182	Q6ZMK1-3	.	W	182	ENSP00000385962:R182W;ENSP00000414647:R182W;ENSP00000304826:R182W	ENSP00000304826:R182W	R	-	1	2	CYHR1	145660353	0.009000	0.17119	0.988000	0.46212	0.980000	0.70556	0.230000	0.17852	-0.180000	0.10637	0.462000	0.41574	CGG		0.647	CYHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382438.1	NM_032687	
ATAD3B	83858	hgsc.bcm.edu	37	1	1417636	1417636	+	Silent	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:1417636C>T	ENST00000308647.7	+	6	749	c.633C>T	c.(631-633)atC>atT	p.I211I	ATAD3B_ENST00000378736.3_3'UTR|ATAD3B_ENST00000378741.3_Silent_p.I43I	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	211						mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCGAGCAGATCCGCCTGAAGG	0.672																																																	0			1											36.0	42.0	40.0					1																	1417636		2198	4296	6494	1407499	SO:0001819	synonymous_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.633C>T	1.37:g.1417636C>T			1407499	A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Silent	SNP	ENST00000308647.7	37	CCDS30.1																																																																																				0.672	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001369.2	NM_031921	
MTOR	2475	hgsc.bcm.edu	37	1	11184574	11184574	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:11184574A>G	ENST00000361445.4	-	47	6719	c.6643T>C	c.(6643-6645)Tct>Cct	p.S2215P	MTOR_ENST00000376838.1_Missense_Mutation_p.S420P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2215	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		S -> Y (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	TTCCGAAGAGATGTTGGGTCA	0.443																																																	0			1											102.0	99.0	100.0					1																	11184574		2203	4300	6503	11107161	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.6643T>C	1.37:g.11184574A>G	ENSP00000354558:p.Ser2215Pro		11107161	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	ENST00000361445.4	37	CCDS127.1	.	.	.	.	.	.	.	.	.	.	A	18.02	3.530226	0.64860	.	.	ENSG00000198793	ENST00000361445;ENST00000376838	T;T	0.78364	-1.17;-1.17	5.8	5.8	0.92144	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	D	0.84678	0.5525	M	0.80183	2.485	0.80722	D	1	P	0.45078	0.85	P	0.51079	0.658	D	0.86737	0.1952	10	0.72032	D	0.01	-14.2436	14.7657	0.69637	1.0:0.0:0.0:0.0	.	2215	P42345	MTOR_HUMAN	P	2215;420	ENSP00000354558:S2215P;ENSP00000366034:S420P	ENSP00000354558:S2215P	S	-	1	0	MTOR	11107161	1.000000	0.71417	0.975000	0.42487	0.998000	0.95712	8.855000	0.92236	2.229000	0.72834	0.529000	0.55759	TCT		0.443	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005558.1	NM_004958	
UBR4	23352	hgsc.bcm.edu	37	1	19490883	19490883	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:19490883C>T	ENST00000375254.3	-	33	4591	c.4564G>A	c.(4564-4566)Gca>Aca	p.A1522T	UBR4_ENST00000375267.2_Missense_Mutation_p.A1522T|UBR4_ENST00000375226.2_Missense_Mutation_p.A1522T|UBR4_ENST00000375217.2_Missense_Mutation_p.A1522T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1522					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A1522T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATCTCTGTTGCCATGGGAGTC	0.522																																																	1	Substitution - Missense(1)	kidney(1)	1											82.0	62.0	69.0					1																	19490883		2203	4300	6503	19363470	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4564G>A	1.37:g.19490883C>T	ENSP00000364403:p.Ala1522Thr		19363470	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628540	0.67015	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25	5.87	5.87	0.94306	.	0.058098	0.64402	D	0.000002	T	0.72020	0.3409	N	0.19112	0.55	0.80722	D	1	D	0.63880	0.993	D	0.70935	0.971	T	0.71227	-0.4655	10	0.38643	T	0.18	.	19.8177	0.96578	0.0:1.0:0.0:0.0	.	1522	Q5T4S7	UBR4_HUMAN	T	1522;1522;1522;1522;232;738	ENSP00000364403:A1522T;ENSP00000364416:A1522T;ENSP00000364365:A1522T;ENSP00000364374:A1522T	ENSP00000364365:A1522T	A	-	1	0	UBR4	19363470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.208000	0.77907	2.778000	0.95560	0.650000	0.86243	GCA		0.522	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
C1QB	713	hgsc.bcm.edu	37	1	22987486	22987486	+	Silent	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:22987486C>T	ENST00000314933.6	+	3	501	c.369C>T	c.(367-369)gcC>gcT	p.A123A	C1QB_ENST00000509305.1_Silent_p.A121A	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	123	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.		A -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGAAAATCGCCTTCTCTGCCA	0.617																																																	0			1											119.0	111.0	114.0					1																	22987486		2203	4300	6503	22860073	SO:0001819	synonymous_variant	713			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.369C>T	1.37:g.22987486C>T			22860073	Q5T959|Q96H17	Silent	SNP	ENST00000314933.6	37	CCDS228.1																																																																																				0.617	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_000491	
MAP3K6	9064	hgsc.bcm.edu	37	1	27690729	27690729	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:27690729C>T	ENST00000493901.1	-	5	900	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	MAP3K6_ENST00000374040.3_Missense_Mutation_p.A213T|MAP3K6_ENST00000357582.2_Missense_Mutation_p.A221T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	221					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGGCGGGCAAGCCGGCCC	0.687																																																	0			1											30.0	36.0	34.0					1																	27690729		2203	4297	6500	27563316	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.661G>A	1.37:g.27690729C>T	ENSP00000419591:p.Ala221Thr		27563316	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	ENST00000493901.1	37	CCDS299.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537839	0.45176	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.09445	2.98;2.98;2.98	5.82	5.82	0.92795	.	.	.	.	.	T	0.08179	0.0204	N	0.14661	0.345	0.24761	N	0.992924	B;B	0.20459	0.037;0.045	B;B	0.18263	0.012;0.021	T	0.31668	-0.9935	9	0.12766	T	0.61	.	17.8623	0.88784	0.0:1.0:0.0:0.0	.	213;221	O95382-3;O95382	.;M3K6_HUMAN	T	213;221;221	ENSP00000363152:A213T;ENSP00000419591:A221T;ENSP00000350195:A221T	ENSP00000350195:A221T	A	-	1	0	MAP3K6	27563316	0.091000	0.21658	0.986000	0.45419	0.999000	0.98932	0.810000	0.27183	2.761000	0.94854	0.655000	0.94253	GCC		0.687	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2	NM_004672	
LRRC7	57554	hgsc.bcm.edu	37	1	70505259	70505259	+	Missense_Mutation	SNP	C	C	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:70505259C>A	ENST00000035383.5	+	19	3668	c.3638C>A	c.(3637-3639)tCc>tAc	p.S1213Y	LRRC7_ENST00000310961.5_Missense_Mutation_p.S1218Y|LRRC7_ENST00000415775.2_Missense_Mutation_p.S497Y	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1213						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						TACGGTGCCTCCCAAACCAGG	0.468																																																	0			1											73.0	68.0	70.0					1																	70505259		2203	4300	6503	70277847	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.3638C>A	1.37:g.70505259C>A	ENSP00000035383:p.Ser1213Tyr		70277847	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988216	0.35036	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.49720	0.77;0.86;1.97	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.46347	0.1388	N	0.14661	0.345	0.43364	D	0.995444	D;D;D	0.71674	0.998;0.983;0.989	D;P;P	0.66351	0.943;0.837;0.768	T	0.54159	-0.8335	10	0.87932	D	0	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	497;1213;1213	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	Y	1218;1213;497;1036	ENSP00000309245:S1218Y;ENSP00000035383:S1213Y;ENSP00000394867:S497Y	ENSP00000035383:S1213Y	S	+	2	0	LRRC7	70277847	1.000000	0.71417	1.000000	0.80357	0.085000	0.17905	5.715000	0.68430	2.937000	0.99478	0.650000	0.86243	TCC		0.468	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144864162	144864162	+	Missense_Mutation	SNP	C	C	T	rs145067181	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:144864162C>T	ENST00000369354.3	-	36	6122	c.5933G>A	c.(5932-5934)cGt>cAt	p.R1978H	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R2063H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1872H|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R2114H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1978H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1978					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GAGGGAAAGACGTTCCTCCCT	0.483			T	PDGFRB	MPD								.|||	6	0.00119808	0.0	0.0014	5008	,	,		38654	0.0		0.003	False		,,,				2504	0.002							Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			1						C	HIS/ARG,HIS/ARG,HIS/ARG	7,4399	14.3+/-33.2	0,7,2196	301.0	319.0	313.0		5615,5933,5933	4.4	0.1	1	dbSNP_134	313	23,8577	15.3+/-51.7	0,23,4277	no	missense,missense,missense	PDE4DIP	NM_001198832.1,NM_001198834.2,NM_014644.4	29,29,29	0,30,6473	TT,TC,CC		0.2674,0.1589,0.2307	probably-damaging,probably-damaging,probably-damaging	1872/2241,1978/2363,1978/2347	144864162	30,12976	2203	4300	6503	143575519	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.5933G>A	1.37:g.144864162C>T	ENSP00000358360:p.Arg1978His		143575519	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.01|17.01	3.280006|3.280006	0.59758|0.59758	0.001589|0.001589	0.002674|0.002674	ENSG00000178104|ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359|ENST00000530130	T;T;T;T;T|.	0.02032|.	4.49;4.57;4.57;4.59;4.58|.	4.43|4.43	4.43|4.43	0.53597|0.53597	.|.	.|.	.|.	.|.	.|.	T|T	0.63780|0.63780	0.2540|0.2540	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.986;1.0|.	P;D|.	0.78314|.	0.73;0.991|.	T|T	0.63202|0.63202	-0.6690|-0.6690	9|5	0.27082|.	T|.	0.32|.	.|.	14.9219|14.9219	0.70843|0.70843	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1872;1978|.	Q5VU43-3;Q5VU43|.	.;MYOME_HUMAN|.	H|I	1872;1978;1978;2063;2114|135	ENSP00000327209:R1872H;ENSP00000358360:R1978H;ENSP00000358363:R1978H;ENSP00000435654:R2063H;ENSP00000358366:R2114H|.	ENSP00000327209:R1872H|.	R|V	-|-	2|1	0|0	PDE4DIP|PDE4DIP	143575519|143575519	0.003000|0.003000	0.15002|0.15002	0.102000|0.102000	0.21198|0.21198	0.358000|0.358000	0.29455|0.29455	1.777000|1.777000	0.38604|0.38604	2.463000|2.463000	0.83235|0.83235	0.555000|0.555000	0.69702|0.69702	CGT|GTC		0.483	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
PDE4DIP	9659	hgsc.bcm.edu	37	1	144882867	144882867	+	Missense_Mutation	SNP	C	C	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:144882867C>A	ENST00000369354.3	-	24	3341	c.3152G>T	c.(3151-3153)aGc>aTc	p.S1051I	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.S1188I|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1117I|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.S1188I|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1051I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1051					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AAGGCAAAGGCTCAGCATGGT	0.502			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0			1											234.0	218.0	224.0					1																	144882867		2203	4296	6499	143594224	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.3152G>T	1.37:g.144882867C>A	ENSP00000358360:p.Ser1051Ile		143594224	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.689355	0.68271	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01963	4.53;4.66;4.66;4.67;4.66	5.9	4.99	0.66335	.	.	.	.	.	T	0.02342	0.0072	N	0.17082	0.46	0.80722	D	1	B;D	0.76494	0.02;0.999	B;D	0.80764	0.027;0.994	T	0.66376	-0.5939	9	0.38643	T	0.18	.	12.163	0.54115	0.3105:0.6895:0.0:0.0	.	1117;1051	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	I	1117;1051;1051;1188;1188	ENSP00000327209:S1117I;ENSP00000358360:S1051I;ENSP00000358363:S1051I;ENSP00000435654:S1188I;ENSP00000358366:S1188I	ENSP00000327209:S1117I	S	-	2	0	PDE4DIP	143594224	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.191000	0.50981	1.506000	0.48736	0.655000	0.94253	AGC		0.502	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359	
ADAMTS4	9507	hgsc.bcm.edu	37	1	161163136	161163136	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:161163136C>T	ENST00000367996.5	-	7	2206	c.1778G>A	c.(1777-1779)cGc>cAc	p.R593H	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	593	Cys-rich.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GAGGTCGGTGCGGTGGTTGTA	0.627																																																	0			1											76.0	69.0	72.0					1																	161163136		2203	4300	6503	159429760	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.1778G>A	1.37:g.161163136C>T	ENSP00000356975:p.Arg593His		159429760	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914070	0.33815	.	.	ENSG00000158859	ENST00000367996	T	0.03553	3.89	4.81	3.89	0.44902	.	0.000000	0.56097	D	0.000026	T	0.00784	0.0026	N	0.16567	0.415	0.80722	D	1	P	0.43542	0.81	B	0.31191	0.125	T	0.64445	-0.6406	10	0.15952	T	0.53	.	12.1591	0.54093	0.0:0.9155:0.0:0.0845	.	593	O75173	ATS4_HUMAN	H	593	ENSP00000356975:R593H	ENSP00000356975:R593H	R	-	2	0	ADAMTS4	159429760	0.218000	0.23608	1.000000	0.80357	0.994000	0.84299	1.029000	0.30140	1.238000	0.43771	0.557000	0.71058	CGC		0.627	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099	
ASTN1	460	hgsc.bcm.edu	37	1	177030287	177030287	+	Missense_Mutation	SNP	C	C	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:177030287C>A	ENST00000367654.3	-	2	609	c.398G>T	c.(397-399)gGa>gTa	p.G133V	ASTN1_ENST00000424564.2_Missense_Mutation_p.G133V|ASTN1_ENST00000361833.2_Missense_Mutation_p.G133V|ASTN1_ENST00000367657.3_Missense_Mutation_p.G133V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	133					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)		p.G133E(1)		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						GGGGTCTTGTCCAGGAAGGCT	0.532																																																	1	Substitution - Missense(1)	lung(1)	1											248.0	234.0	239.0					1																	177030287		2203	4300	6503	175296910	SO:0001583	missense	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.398G>T	1.37:g.177030287C>A	ENSP00000356626:p.Gly133Val		175296910	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37		.	.	.	.	.	.	.	.	.	.	C	18.85	3.711990	0.68730	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.15487	2.42;2.83;2.83;2.42	6.06	6.06	0.98353	.	0.081308	0.51477	D	0.000082	T	0.23014	0.0556	N	0.25647	0.755	0.80722	D	1	P;P;P	0.41393	0.748;0.748;0.748	P;P;P	0.47206	0.541;0.541;0.541	T	0.00448	-1.1733	10	0.72032	D	0.01	-9.3983	20.2159	0.98296	0.0:1.0:0.0:0.0	.	133;133;133	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	V	133	ENSP00000356629:G133V;ENSP00000354536:G133V;ENSP00000356626:G133V;ENSP00000395041:G133V	ENSP00000354536:G133V	G	-	2	0	ASTN1	175296910	0.999000	0.42202	0.998000	0.56505	0.984000	0.73092	3.733000	0.55029	2.882000	0.98803	0.655000	0.94253	GGA		0.532	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319	
TOR1AIP1	26092	hgsc.bcm.edu	37	1	179886683	179886683	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:179886683T>C	ENST00000606911.2	+	10	1252	c.1061T>C	c.(1060-1062)tTc>tCc	p.F354S	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.F233S|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.F355S|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.F370S|TOR1AIP1_ENST00000474875.1_3'UTR			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	354					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						AGTTTTTGGTTCTTTAGTACT	0.453																																																	0			1											116.0	124.0	122.0					1																	179886683		2203	4300	6503	178153306	SO:0001583	missense	26092				CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.1061T>C	1.37:g.179886683T>C	ENSP00000476687:p.Phe354Ser		178153306	A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.30|14.30	2.494951|2.494951	0.44352|0.44352	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000528443;ENST00000271583;ENST00000435319|ENST00000447964	T;T;T|.	0.31247|.	1.5;1.5;1.5|.	5.96|5.96	-3.77|-3.77	0.04346|0.04346	.|.	1.146510|.	0.06179|.	N|.	0.679180|.	T|T	0.33731|0.33731	0.0873|0.0873	L|L	0.45581|0.45581	1.43|1.43	0.09310|0.09310	N|N	1|1	B|.	0.17667|.	0.023|.	B|.	0.12837|.	0.008|.	T|T	0.41893|0.41893	-0.9483|-0.9483	9|5	.|.	.|.	.|.	0.8852|0.8852	5.6542|5.6542	0.17633|0.17633	0.4952:0.1571:0.0:0.3478|0.4952:0.1571:0.0:0.3478	.|.	354|.	Q5JTV8|.	TOIP1_HUMAN|.	S|P	355;370;354|89	ENSP00000435365:F355S;ENSP00000271583:F370S;ENSP00000393292:F354S|.	.|.	F|S	+|+	2|1	0|0	TOR1AIP1|TOR1AIP1	178153306|178153306	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.404000|0.404000	0.30871|0.30871	-0.210000|-0.210000	0.09345|0.09345	-0.108000|-0.108000	0.12066|0.12066	0.533000|0.533000	0.62120|0.62120	TTC|TCT		0.453	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602	
KIF14	9928	hgsc.bcm.edu	37	1	200529955	200529955	+	Silent	SNP	G	G	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:200529955G>T	ENST00000367350.4	-	26	4563	c.4125C>A	c.(4123-4125)atC>atA	p.I1375I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1375	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GTACAATTTGGATTGCATTCT	0.368																																																	0			1											178.0	164.0	168.0					1																	200529955		2203	4300	6503	198796578	SO:0001819	synonymous_variant	9928			D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4125C>A	1.37:g.200529955G>T			198796578	Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	CCDS30963.1																																																																																				0.368	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875	
SIPA1L2	57568	hgsc.bcm.edu	37	1	232579389	232579389	+	Silent	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:232579389G>A	ENST00000366630.1	-	11	3754	c.3396C>T	c.(3394-3396)ccC>ccT	p.P1132P	SIPA1L2_ENST00000308942.4_Silent_p.P206P|SIPA1L2_ENST00000262861.4_Silent_p.P1132P			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1132					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CGCTCCCGCCGGGTCCAGGGT	0.522																																																	0			1											77.0	89.0	85.0					1																	232579389		1936	4132	6068	230646012	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.3396C>T	1.37:g.232579389G>A			230646012	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.522	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
MRGPRE	116534	hgsc.bcm.edu	37	11	3249228	3249228	+	Missense_Mutation	SNP	C	C	T	rs199803545	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:3249228C>T	ENST00000389832.5	-	2	1108	c.802G>A	c.(802-804)Gtc>Atc	p.V268I	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.V267I			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	268						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAAGTAGACGACGGGCTTG	0.672													C|||	3	0.000599042	0.0023	0.0	5008	,	,		15434	0.0		0.0	False		,,,				2504	0.0																0			11						C	ILE/VAL	7,3777		0,7,1885	13.0	19.0	17.0		799	-7.2	0.0	11		17	1,8197		0,1,4098	yes	missense	MRGPRE	NM_001039165.2	29	0,8,5983	TT,TC,CC		0.0122,0.185,0.0668	benign	267/312	3249228	8,11974	1892	4099	5991	3205804	SO:0001583	missense	116534			AY255572	CCDS41603.1, CCDS41603.2	11p15.5	2012-08-21	2004-03-25		ENSG00000184350	ENSG00000184350		"""GPCR / Class A : Orphans"""	30694	protein-coding gene	gene with protein product		607232	"""G protein-coupled receptor 167"""	GPR167		11551509	Standard	NM_001039165		Approved	mrgE	uc001lxq.5	Q86SM8	OTTHUMG00000011708	ENST00000389832.5:c.802G>A	11.37:g.3249228C>T	ENSP00000374482:p.Val268Ile		3205804	Q2M1V7	Missense_Mutation	SNP	ENST00000389832.5	37		.	.	.	.	.	.	.	.	.	.	c	0.015	-1.543006	0.00934	0.00185	1.22E-4	ENSG00000184350	ENST00000436689;ENST00000389832	T	0.32753	1.44	3.6	-7.21	0.01490	GPCR, rhodopsin-like superfamily (1);	0.164676	0.27366	N	0.019687	T	0.03434	0.0099	N	0.00123	-2.06	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21280	-1.0250	10	0.02654	T	1	-8.5808	6.769	0.23583	0.0:0.3357:0.3389:0.3253	.	267	Q86SM8	MRGRE_HUMAN	I	268;267	ENSP00000374482:V267I	ENSP00000374482:V267I	V	-	1	0	MRGPRE	3205804	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-1.674000	0.01949	-1.984000	0.00985	-2.646000	0.00150	GTC		0.672	MRGPRE-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000032346.5	XM_171536	
DNHD1	144132	hgsc.bcm.edu	37	11	6530297	6530297	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:6530297C>T	ENST00000527990.2	+	3	1108	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	DNHD1_ENST00000254579.6_Missense_Mutation_p.R370C|DNHD1_ENST00000354685.3_Missense_Mutation_p.R370C			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	370					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCCTCTTACGCAAGTCCTT	0.453																																																	0			11											190.0	175.0	180.0					11																	6530297		2201	4296	6497	6486873	SO:0001583	missense	144132			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.1108C>T	11.37:g.6530297C>T	ENSP00000436180:p.Arg370Cys		6486873	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	37	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680339	0.68042	.	.	ENSG00000179532	ENST00000254579;ENST00000354685;ENST00000527990	T;T;T	0.17691	2.26;2.26;2.26	5.47	3.33	0.38152	.	0.523957	0.16861	N	0.196527	T	0.36853	0.0982	M	0.78801	2.425	0.38032	D	0.935202	D;D	0.89917	1.0;1.0	P;D	0.63597	0.877;0.916	T	0.31833	-0.9929	10	0.56958	D	0.05	.	8.7968	0.34885	0.1575:0.7492:0.0:0.0933	.	370;370	Q96M86;Q96M86-4	DNHD1_HUMAN;.	C	370	ENSP00000254579:R370C;ENSP00000346716:R370C;ENSP00000436180:R370C	ENSP00000254579:R370C	R	+	1	0	DNHD1	6486873	0.994000	0.37717	1.000000	0.80357	0.993000	0.82548	0.780000	0.26760	1.242000	0.43836	0.650000	0.86243	CGC		0.453	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
DCDC1	341019	hgsc.bcm.edu	37	11	30926660	30926660	+	Missense_Mutation	SNP	G	G	A	rs201587746		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:30926660G>A	ENST00000597505.1	-	29	4155	c.4156C>T	c.(4156-4158)Cgt>Tgt	p.R1386C	DCDC1_ENST00000339794.5_Missense_Mutation_p.R465C|DCDC1_ENST00000406071.2_Missense_Mutation_p.R121C			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GACAATAGACGTGCTTGGTAG	0.373																																																	0			11											112.0	102.0	105.0					11																	30926660		2202	4299	6501	30883236	SO:0001583	missense	196296			AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.4156C>T	11.37:g.30926660G>A	ENSP00000472625:p.Arg1386Cys		30883236	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37		.	.	.	.	.	.	.	.	.	.	G	4.359	0.066182	0.08388	.	.	ENSG00000170959	ENST00000406071;ENST00000339794	.	.	.	5.31	4.4	0.53042	.	1.055950	0.07427	N	0.895061	T	0.33498	0.0865	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.21518	-1.0243	9	0.40728	T	0.16	0.1881	7.4509	0.27237	0.0898:0.1684:0.7418:0.0	.	465	Q6ZRR9	DCDC5_HUMAN	C	121;465	.	ENSP00000341700:R465C	R	-	1	0	DCDC5	30883236	0.024000	0.19004	0.005000	0.12908	0.004000	0.04260	0.708000	0.25719	1.233000	0.43693	0.655000	0.94253	CGT		0.373	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
ZFP91	80829	hgsc.bcm.edu	37	11	58384980	58384980	+	Missense_Mutation	SNP	G	G	C	rs369678965		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:58384980G>C	ENST00000316059.6	+	11	1685	c.1514G>C	c.(1513-1515)gGa>gCa	p.G505A	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.G505A	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	505					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TCAACCTCTGGAGAGTGCCTA	0.532																																																	0			11											90.0	82.0	84.0					11																	58384980		2201	4295	6496	58141556	SO:0001583	missense	80829			AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1514G>C	11.37:g.58384980G>C	ENSP00000339030:p.Gly505Ala		58141556	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634266	0.47049	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.09911	2.93	6.16	5.21	0.72293	.	0.200181	0.34906	N	0.003582	T	0.07143	0.0181	N	0.08118	0	0.29716	N	0.839021	B;B	0.13594	0.008;0.002	B;B	0.14578	0.011;0.003	T	0.13656	-1.0501	10	0.38643	T	0.18	-19.368	16.4438	0.83909	0.0:0.1423:0.8577:0.0	.	505;505	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	A	505	ENSP00000339030:G505A	ENSP00000374569:G505A	G	+	2	0	ZFP91	58141556	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.026000	0.41069	2.937000	0.99478	0.650000	0.86243	GGA		0.532	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023	
SYTL2	54843	hgsc.bcm.edu	37	11	85436931	85436931	+	Intron	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:85436931C>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.G190E|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.G190E|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.G714E	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)	p.G190V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CACTTGTTTTCCATGAACTTT	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)	11											118.0	111.0	114.0					11																	85436931		2203	4299	6502	85114579	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2007G>A	11.37:g.85436931C>T			85114579	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	ENST00000528231.1	37	CCDS53688.1	.	.	.	.	.	.	.	.	.	.	C	8.776	0.926992	0.18056	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.25579	1.79;1.81;1.81	6.17	-3.84	0.04256	.	1.580750	0.03505	N	0.218707	T	0.11623	0.0283	N	0.12746	0.255	0.09310	N	0.999997	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.08055	0.003;0.003;0.003	T	0.18493	-1.0335	9	.	.	.	1.7323	2.926	0.05784	0.12:0.3509:0.0956:0.4335	.	190;190;190	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	E	714;190;190	ENSP00000352065:G714E;ENSP00000346576:G190E;ENSP00000432694:G190E	.	G	-	2	0	SYTL2	85114579	0.000000	0.05858	0.001000	0.08648	0.686000	0.39977	-2.817000	0.00751	-0.200000	0.10300	0.655000	0.94253	GGA		0.403	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392192.1	NM_206927	
DDX6	1656	hgsc.bcm.edu	37	11	118627889	118627889	+	Silent	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:118627889T>C	ENST00000526070.2	-	10	1461	c.1101A>G	c.(1099-1101)aaA>aaG	p.K367K	DDX6_ENST00000264018.4_Silent_p.K367K|DDX6_ENST00000534980.1_Silent_p.K367K	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	367	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CCTGCCTCATTTTAGCATGAA	0.323			T	IGH@	B-NHL																																			Dom	yes		11	11q23.3	1656	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6		L	0			11											42.0	38.0	39.0					11																	118627889		1794	4061	5855	118133099	SO:0001819	synonymous_variant	1656			D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.1101A>G	11.37:g.118627889T>C			118133099	Q5D048	Silent	SNP	ENST00000526070.2	37	CCDS44751.1																																																																																				0.323	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	
DPAGT1	1798	hgsc.bcm.edu	37	11	118971414	118971414	+	Missense_Mutation	SNP	A	A	G	rs374406577		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:118971414A>G	ENST00000409993.2	-	5	1973	c.422T>C	c.(421-423)tTc>tCc	p.F141S	DPAGT1_ENST00000432443.2_Missense_Mutation_p.F34S|DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000354202.4_Missense_Mutation_p.F141S			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	141					cellular protein metabolic process (GO:0044267)|dolichol biosynthetic process (GO:0019408)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|protein oligomerization (GO:0051259)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	phospho-N-acetylmuramoyl-pentapeptide-transferase activity (GO:0008963)|transferase activity, transferring glycosyl groups (GO:0016757)|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity (GO:0003975)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		AAAGTTGGTGAAATAGACCAT	0.552											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			11						A	SER/PHE	0,4400		0,0,2200	75.0	60.0	65.0		422	5.5	1.0	11		65	1,8589	1.2+/-3.3	0,1,4294	no	missense	DPAGT1	NM_001382.3	155	0,1,6494	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	141/409	118971414	1,12989	2200	4295	6495	118476624	SO:0001583	missense	1798			Z82022	CCDS8411.1	11q23.3	2007-12-14			ENSG00000172269	ENSG00000172269	2.7.8.15		2995	protein-coding gene	gene with protein product		191350		DPAGT2, DPAGT		8244387	Standard	NM_001382		Approved	GPT, D11S366, DGPT, ALG7, CDG-Ij	uc001pvi.3	Q9H3H5	OTTHUMG00000153533	ENST00000409993.2:c.422T>C	11.37:g.118971414A>G	ENSP00000386597:p.Phe141Ser	1492	118476624	O15216|Q86WV9|Q9BWE6	Missense_Mutation	SNP	ENST00000409993.2	37	CCDS8411.1	.	.	.	.	.	.	.	.	.	.	A	32	5.137261	0.94517	0.0	1.16E-4	ENSG00000172269	ENST00000409993;ENST00000354202;ENST00000432443	D;D;D	0.93366	-3.21;-3.21;-3.21	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.93194	0.7832	L	0.60455	1.87	0.80722	D	1	P;P	0.47191	0.891;0.797	P;P	0.47346	0.544;0.544	D	0.93795	0.7096	10	0.72032	D	0.01	-25.9921	14.8174	0.70045	1.0:0.0:0.0:0.0	.	34;141	E7EW40;Q9H3H5	.;GPT_HUMAN	S	141;141;34	ENSP00000386597:F141S;ENSP00000346142:F141S;ENSP00000404036:F34S	ENSP00000346142:F141S	F	-	2	0	DPAGT1	118476624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.090000	0.63153	0.460000	0.39030	TTC		0.552	DPAGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331527.2	NM_001382	
BSX	390259	hgsc.bcm.edu	37	11	122850031	122850031	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:122850031G>A	ENST00000343035.2	-	2	445	c.397C>T	c.(397-399)Cgc>Tgc	p.R133C		NM_001098169.1	NP_001091639.1	Q3C1V8	BSH_HUMAN	brain-specific homeobox	133					eating behavior (GO:0042755)|locomotory behavior (GO:0007626)|mammary gland involution (GO:0060056)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	10		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0361)		GACAGGTAGCGCTGGATCTCG	0.672																																																	0			11											59.0	71.0	67.0					11																	122850031		2074	4196	6270	122355241	SO:0001583	missense	390259				CCDS41728.1	11q24.1	2011-07-19			ENSG00000188909	ENSG00000188909		"""Homeoboxes / ANTP class : NKL subclass"""	20450	protein-coding gene	gene with protein product		611074					Standard	NM_001098169		Approved	BSX1	uc010rzs.2	Q3C1V8	OTTHUMG00000150247	ENST00000343035.2:c.397C>T	11.37:g.122850031G>A	ENSP00000344285:p.Arg133Cys		122355241		Missense_Mutation	SNP	ENST00000343035.2	37	CCDS41728.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602929	0.87157	.	.	ENSG00000188909	ENST00000343035	D	0.96745	-4.11	5.22	4.25	0.50352	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.104648	0.64402	D	0.000005	D	0.97867	0.9299	M	0.81614	2.55	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98350	1.0543	10	0.87932	D	0	.	14.546	0.68030	0.0:0.0:0.853:0.147	.	133	Q3C1V8	BSH_HUMAN	C	133	ENSP00000344285:R133C	ENSP00000344285:R133C	R	-	1	0	BSX	122355241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.404000	0.59735	2.454000	0.82982	0.655000	0.94253	CGC		0.672	BSX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317076.1	NM_001098169	
TBC1D32	221322	hgsc.bcm.edu	37	6	121638667	121638667	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr6:121638667A>G	ENST00000398212.2	-	3	518	c.469T>C	c.(469-471)Tct>Cct	p.S157P	TBC1D32_ENST00000275159.6_Missense_Mutation_p.S157P	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	157					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TCACTATCAGAGCAATTGTCT	0.318																																																	0			6											296.0	270.0	278.0					6																	121638667		1862	4091	5953	121680366	SO:0001583	missense	221322			AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.469T>C	6.37:g.121638667A>G	ENSP00000381270:p.Ser157Pro		121680366	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870427	0.51588	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.25414	1.8;1.8;1.8	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.20170	0.0485	M	0.62016	1.91	0.54753	D	0.999987	P	0.47762	0.9	B	0.43194	0.411	T	0.02805	-1.1108	10	0.51188	T	0.08	-0.0535	15.0687	0.72017	1.0:0.0:0.0:0.0	.	157	Q96NH3	BROMI_HUMAN	P	157	ENSP00000275159:S157P;ENSP00000381270:S157P;ENSP00000397993:S157P	ENSP00000275159:S157P	S	-	1	0	C6orf170	121680366	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.050000	0.89445	2.013000	0.59113	0.533000	0.62120	TCT		0.318	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TNFAIP3	7128	hgsc.bcm.edu	37	6	138198312	138198312	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr6:138198312T>C	ENST00000237289.4	+	6	971	c.905T>C	c.(904-906)cTc>cCc	p.L302P	TNFAIP3_ENST00000485192.1_3'UTR	NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	302	2 X approximate repeats.				apoptotic process (GO:0006915)|B-1 B cell homeostasis (GO:0001922)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of B cell activation (GO:0050869)|negative regulation of bone resorption (GO:0045779)|negative regulation of CD40 signaling pathway (GO:2000349)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast proliferation (GO:0090291)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of tumor necrosis factor production (GO:0032720)|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 protein catabolic process (GO:0045732)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked deubiquitination (GO:0070536)|protein oligomerization (GO:0051259)|regulation of defense response to virus by host (GO:0050691)|regulation of germinal center formation (GO:0002634)|regulation of vascular wound healing (GO:0061043)|response to molecule of bacterial origin (GO:0002237)|tolerance induction to lipopolysaccharide (GO:0072573)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|protease binding (GO:0002020)|protein self-association (GO:0043621)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.0?(25)|p.L302P(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		AAGGAGAAGCTCTTAAAAGAG	0.423			"""D, N, F"""		"""marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"""																																GBM(130;153 1739 22295 28918 47987)			Rec	yes		6	6q23	7128	"""tumor necrosis factor, alpha-induced protein 3"""		L	26	Whole gene deletion(25)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(26)	6											93.0	98.0	96.0					6																	138198312		2203	4300	6503	138240005	SO:0001583	missense	7128			M59465	CCDS5187.1	6q23-q25	2013-01-21			ENSG00000118503	ENSG00000118503		"""OTU domain containing"""	11896	protein-coding gene	gene with protein product		191163				2118515	Standard	NM_006290		Approved	A20, OTUD7C	uc031spw.1	P21580	OTTHUMG00000015664	ENST00000237289.4:c.905T>C	6.37:g.138198312T>C	ENSP00000237289:p.Leu302Pro		138240005	B2R767|E1P588|Q2HIX9|Q5VXQ7|Q9NSR6	Missense_Mutation	SNP	ENST00000237289.4	37	CCDS5187.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.615533	0.87359	.	.	ENSG00000118503	ENST00000237289;ENST00000535574;ENST00000544646	T	0.39787	1.06	6.08	6.08	0.98989	.	0.060900	0.64402	D	0.000002	T	0.46151	0.1378	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.51980	-0.8636	10	0.87932	D	0	-14.2873	15.214	0.73250	0.0:0.0:0.0:1.0	.	302	P21580	TNAP3_HUMAN	P	302	ENSP00000237289:L302P	ENSP00000237289:L302P	L	+	2	0	TNFAIP3	138240005	1.000000	0.71417	0.923000	0.36655	0.924000	0.55760	7.375000	0.79646	2.330000	0.79161	0.533000	0.62120	CTC		0.423	TNFAIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042414.1		
C6orf118	168090	hgsc.bcm.edu	37	6	165713889	165713889	+	Missense_Mutation	SNP	A	A	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr6:165713889A>T	ENST00000230301.8	-	3	860	c.840T>A	c.(838-840)agT>agA	p.S280R	C6orf118_ENST00000543069.1_Missense_Mutation_p.S176R	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	280										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ATATCAAAGAACTGTTACAAA	0.393																																																	0			6											112.0	131.0	125.0					6																	165713889		2203	4300	6503	165633879	SO:0001583	missense	168090				CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.840T>A	6.37:g.165713889A>T	ENSP00000230301:p.Ser280Arg		165633879	Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.422750	0.62733	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13901	2.55;2.55	5.24	-0.952	0.10366	.	0.226301	0.38663	N	0.001608	T	0.17238	0.0414	L	0.61218	1.895	0.28469	N	0.915529	D	0.76494	0.999	D	0.72075	0.976	T	0.09143	-1.0688	10	0.56958	D	0.05	.	14.0096	0.64488	0.1648:0.0:0.8352:0.0	.	280	Q5T5N4	CF118_HUMAN	R	280;176	ENSP00000230301:S280R;ENSP00000439288:S176R	ENSP00000230301:S280R	S	-	3	2	C6orf118	165633879	0.961000	0.32948	0.784000	0.31847	0.787000	0.44495	-0.194000	0.09559	-0.517000	0.06461	0.533000	0.62120	AGT		0.393	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980	
TP53	7157	hgsc.bcm.edu	37	17	7577079	7577079	+	Nonsense_Mutation	SNP	C	C	A	rs587782006		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr17:7577079C>A	ENST00000269305.4	-	8	1048	c.859G>T	c.(859-861)Gag>Tag	p.E287*	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.E287*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E287*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.E287*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E287*	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	287	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.N288fs*13(17)|p.E287*(13)|p.0?(8)|p.E287K(6)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.E287fs*17(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	CGGAGATTCTCTTCCTCTGTG	0.567		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"""	60	Deletion - Frameshift(25)|Substitution - Nonsense(13)|Whole gene deletion(8)|Deletion - In frame(6)|Substitution - Missense(6)|Unknown(2)	upper_aerodigestive_tract(20)|breast(6)|lung(6)|large_intestine(4)|bone(4)|liver(4)|stomach(3)|urinary_tract(3)|oesophagus(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|skin(2)|pancreas(1)	17	GRCh37	CM044948	TP53	M							97.0	83.0	88.0					17																	7577079		2203	4300	6503	7517804	SO:0001587	stop_gained	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.859G>T	17.37:g.7577079C>A	ENSP00000269305:p.Glu287*		7517804	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.403327	0.83230	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.12	4.15	0.48705	.	0.602197	0.18632	N	0.135543	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-7.7207	11.4307	0.50038	0.0:0.9127:0.0:0.0873	.	.	.	.	X	287;287;287;287;287;276;155	.	ENSP00000269305:E287X	E	-	1	0	TP53	7517804	1.000000	0.71417	0.955000	0.39395	0.167000	0.22549	4.360000	0.59455	1.381000	0.46364	-0.258000	0.10820	GAG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
FKBP10	60681	hgsc.bcm.edu	37	17	39977328	39977328	+	Silent	SNP	C	C	T	rs571808781	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr17:39977328C>T	ENST00000321562.4	+	8	1490	c.1386C>T	c.(1384-1386)caC>caT	p.H462H	FKBP10_ENST00000544340.1_Silent_p.H235H	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	462	PPIase FKBP-type 4. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ACCTGGCCCACGGGGAGAGTG	0.552													C|||	2	0.000399361	0.0008	0.0	5008	,	,		13628	0.0		0.0	False		,,,				2504	0.001																0			17											12.0	13.0	12.0					17																	39977328		2183	4271	6454	37230854	SO:0001819	synonymous_variant	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.1386C>T	17.37:g.39977328C>T			37230854	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Silent	SNP	ENST00000321562.4	37	CCDS11409.1	.	.	.	.	.	.	.	.	.	.	C	6.777	0.512306	0.12944	.	.	ENSG00000141756	ENST00000455106	.	.	.	5.38	-5.25	0.02781	.	.	.	.	.	T	0.62804	0.2458	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64394	-0.6418	4	.	.	.	-22.9653	14.7979	0.69891	0.0:0.4266:0.0:0.5734	.	.	.	.	M	266	.	.	T	+	2	0	FKBP10	37230854	0.001000	0.12720	0.645000	0.29479	0.923000	0.55619	-1.651000	0.01989	-0.860000	0.04099	-1.036000	0.02392	ACG		0.552	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257410.2	NM_021939	
STAT5A	6776	hgsc.bcm.edu	37	17	40453361	40453361	+	Missense_Mutation	SNP	G	G	A	rs372745237		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr17:40453361G>A	ENST00000345506.4	+	10	1700	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	STAT5A_ENST00000588868.1_Missense_Mutation_p.R353H|STAT5A_ENST00000546010.2_Missense_Mutation_p.R323H|STAT5A_ENST00000590949.1_Missense_Mutation_p.R353H|STAT5A_ENST00000452307.2_Missense_Mutation_p.R353H	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	353					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GCCACCGTACGCCTGCTGGTG	0.557																																																	0			17						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	154.0	133.0	140.0		1058	4.6	1.0	17		140	0,8600		0,0,4300	no	missense	STAT5A	NM_003152.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	353/795	40453361	1,13005	2203	4300	6503	37706887	SO:0001583	missense	6776			U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.1058G>A	17.37:g.40453361G>A	ENSP00000341208:p.Arg353His		37706887	Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818980	0.90873	2.27E-4	0.0	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	D;D;D	0.94184	-3.37;-3.37;-3.37	4.6	4.6	0.57074	STAT transcription factor, DNA-binding, subdomain (1);STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97278	0.9110	M	0.89601	3.045	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	D	0.98413	1.0573	10	0.87932	D	0	-13.3349	17.4923	0.87708	0.0:0.0:1.0:0.0	.	323;355;353	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	H	353;323;355;353	ENSP00000341208:R353H;ENSP00000443107:R323H;ENSP00000400320:R353H	ENSP00000341208:R353H	R	+	2	0	STAT5A	37706887	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.698000	0.98700	2.122000	0.65172	0.306000	0.20318	CGC		0.557	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152	
BRIP1	83990	hgsc.bcm.edu	37	17	59886067	59886067	+	Nonsense_Mutation	SNP	G	G	A	rs45459799		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr17:59886067G>A	ENST00000259008.2	-	7	946	c.679C>T	c.(679-681)Caa>Taa	p.Q227*	BRIP1_ENST00000577598.1_Nonsense_Mutation_p.Q227*	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	227	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GATGACTCTTGACTGTTTCCT	0.388			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0			17											85.0	80.0	82.0					17																	59886067		2203	4300	6503	57240849	SO:0001587	stop_gained	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.679C>T	17.37:g.59886067G>A	ENSP00000259008:p.Gln227*		57240849	Q3MJE2|Q8NCI5	Nonsense_Mutation	SNP	ENST00000259008.2	37	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353297	0.95830	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.29	0.53	0.17102	.	0.576431	0.19352	N	0.116363	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.4737	3.4205	0.07392	0.0767:0.2361:0.321:0.3662	.	.	.	.	X	227	.	.	Q	-	1	0	BRIP1	57240849	0.967000	0.33354	0.980000	0.43619	0.899000	0.52679	1.517000	0.35867	0.279000	0.22186	-0.292000	0.09595	CAA		0.388	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	
NOL11	25926	hgsc.bcm.edu	37	17	65732801	65732801	+	Silent	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr17:65732801T>C	ENST00000253247.4	+	10	1189	c.1074T>C	c.(1072-1074)caT>caC	p.H358H	NOL11_ENST00000535137.1_Silent_p.H176H	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	358					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCGTGTCCCATTTTGTAAACT	0.363																																																	0			17											87.0	81.0	83.0					17																	65732801		2203	4300	6503	63163263	SO:0001819	synonymous_variant	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.1074T>C	17.37:g.65732801T>C			63163263	B7Z5V9|Q7L5S1|Q9UG18	Silent	SNP	ENST00000253247.4	37	CCDS11671.1																																																																																				0.363	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448074.1	NM_015462	
TIAM1	7074	hgsc.bcm.edu	37	21	32624145	32624145	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr21:32624145C>T	ENST00000286827.3	-	6	1795	c.1324G>A	c.(1324-1326)Gtc>Atc	p.V442I	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.V442I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	442	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AAGTTCTTGACGGCCAGGGCG	0.642																																																	0			21											72.0	74.0	73.0					21																	32624145		2203	4300	6503	31546016	SO:0001583	missense	7074				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1324G>A	21.37:g.32624145C>T	ENSP00000286827:p.Val442Ile		31546016	B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822484	0.71028	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.50548	0.78;0.74	4.62	4.62	0.57501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.064020	0.64402	D	0.000008	T	0.36331	0.0963	L	0.34521	1.04	0.80722	D	1	P;P;P;P	0.52316	0.887;0.907;0.952;0.907	B;B;B;B	0.36289	0.081;0.197;0.221;0.132	T	0.45264	-0.9273	10	0.59425	D	0.04	.	17.6527	0.88169	0.0:1.0:0.0:0.0	.	442;442;283;442	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	I	442;283;442	ENSP00000286827:V442I;ENSP00000441570:V442I	ENSP00000286827:V442I	V	-	1	0	TIAM1	31546016	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.494000	0.66905	2.381000	0.81170	0.655000	0.94253	GTC		0.642	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
PAXBP1	94104	hgsc.bcm.edu	37	21	34117133	34117133	+	Silent	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr21:34117133T>C	ENST00000331923.4	-	13	2349	c.2160A>G	c.(2158-2160)tcA>tcG	p.S720S	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Silent_p.S720S	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	720					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CATTCACTACTGAAGGATATC	0.318																																																	0			21											110.0	122.0	118.0					21																	34117133		2203	4296	6499	33039004	SO:0001819	synonymous_variant	0			AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.2160A>G	21.37:g.34117133T>C			33039004	D3DSE7|Q96DU8|Q9NYQ0	Silent	SNP	ENST00000331923.4	37	CCDS13619.1																																																																																				0.318	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	NM_013329	
PTPRM	5797	hgsc.bcm.edu	37	18	8247843	8247843	+	Splice_Site	SNP	C	C	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr18:8247843C>G	ENST00000332175.8	+	16	3490	c.2453C>G	c.(2452-2454)tCt>tGt	p.S818C	PTPRM_ENST00000400053.4_Splice_Site_p.S756C|PTPRM_ENST00000444013.1_Splice_Site_p.S605C|PTPRM_ENST00000580170.1_Splice_Site_p.S818C|PTPRM_ENST00000400060.4_Splice_Site_p.S818C	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	818					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TTATTTACAGCTGTGTCTTCA	0.468																																																	0			18											145.0	131.0	136.0					18																	8247843		2203	4300	6503	8237843	SO:0001630	splice_region_variant	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2453-1C>G	18.37:g.8247843C>G			8237843	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069916	0.55539	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.49432	1.1;1.09;0.92;0.78	6.17	6.17	0.99709	.	0.245924	0.45126	D	0.000399	T	0.58133	0.2101	M	0.63843	1.955	0.80722	D	1	P;D;D	0.58620	0.809;0.983;0.983	B;P;P	0.49561	0.345;0.615;0.615	T	0.53244	-0.8466	9	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	605;818;818	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	C	818;818;756;605	ENSP00000331418:S818C;ENSP00000382933:S818C;ENSP00000382927:S756C;ENSP00000387608:S605C	.	S	+	2	0	PTPRM	8237843	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.175000	0.77632	2.941000	0.99782	0.655000	0.94253	TCT		0.468	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1		Missense_Mutation
LOXHD1	125336	hgsc.bcm.edu	37	18	44057643	44057643	+	Missense_Mutation	SNP	C	C	T	rs531043544		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr18:44057643C>T	ENST00000398722.4	-	34	5779	c.5780G>A	c.(5779-5781)cGc>cAc	p.R1927H	LOXHD1_ENST00000398705.2_Missense_Mutation_p.R444H|LOXHD1_ENST00000398686.4_Missense_Mutation_p.R444H|LOXHD1_ENST00000300591.6_Missense_Mutation_p.R1094H|LOXHD1_ENST00000536736.1_Missense_Mutation_p.R2143H|LOXHD1_ENST00000582408.1_Missense_Mutation_p.R1032H|LOXHD1_ENST00000441551.2_Missense_Mutation_p.R1999H|LOXHD1_ENST00000441893.2_Missense_Mutation_p.R1076H|LOXHD1_ENST00000579038.1_Missense_Mutation_p.R998H			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1927	PLAT 14. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						CAGGAAGAAGCGGTCTGTGCT	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21304	0.0		0.0	False		,,,				2504	0.0																0			18											57.0	60.0	59.0					18																	44057643		692	1591	2283	42311641	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.5780G>A	18.37:g.44057643C>T	ENSP00000381707:p.Arg1927His		42311641	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	C	14.17	2.455483	0.43634	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.14	2.32	0.28847	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	.	.	.	.	T	0.51907	0.1702	L	0.42529	1.33	0.41999	D	0.990883	B;B;B	0.25007	0.095;0.095;0.116	B;B;B	0.23852	0.029;0.029;0.049	T	0.48725	-0.9010	9	0.44086	T	0.13	.	10.9026	0.47059	0.0:0.7887:0.0:0.2113	.	2143;1076;1927	F5GZB4;F8WA52;Q8IVV2	.;.;LOXH1_HUMAN	H	1094;1927;444;2143;1076;444	ENSP00000300591:R1094H;ENSP00000381707:R1927H;ENSP00000381692:R444H;ENSP00000444586:R2143H;ENSP00000409062:R1076H;ENSP00000381676:R444H	ENSP00000300591:R1094H	R	-	2	0	LOXHD1	42311641	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.067000	0.57527	0.562000	0.29204	0.561000	0.74099	CGC		0.622	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
LOXHD1	125336	hgsc.bcm.edu	37	18	44087528	44087528	+	Missense_Mutation	SNP	C	C	T	rs374269964		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr18:44087528C>T	ENST00000398722.4	-	29	4830	c.4831G>A	c.(4831-4833)Gtc>Atc	p.V1611I	LOXHD1_ENST00000398705.2_Missense_Mutation_p.V128I|LOXHD1_ENST00000398686.4_Missense_Mutation_p.V128I|LOXHD1_ENST00000300591.6_Missense_Mutation_p.V778I|LOXHD1_ENST00000536736.1_Missense_Mutation_p.V1827I|LOXHD1_ENST00000582408.1_Missense_Mutation_p.V716I|LOXHD1_ENST00000441551.2_Missense_Mutation_p.V1683I|LOXHD1_ENST00000441893.2_Missense_Mutation_p.V760I|LOXHD1_ENST00000579038.1_Missense_Mutation_p.V682I			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1611	PLAT 12. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						TTAACTGCGACGGTGTAGGAG	0.577																																																	0			18						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	0,1384		0,0,692	117.0	106.0	109.0		2332,382,382,5479	5.4	0.6	18		109	1,3181		0,1,1590	no	missense,missense,missense,missense	LOXHD1	NM_001145472.2,NM_001145473.2,NM_001173129.1,NM_144612.6	29,29,29,29	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	778/1115,128/513,128/458,1827/2212	44087528	1,4565	692	1591	2283	42341526	SO:0001583	missense	125336			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.4831G>A	18.37:g.44087528C>T	ENSP00000381707:p.Val1611Ile		42341526	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	ENST00000398722.4	37		.	.	.	.	.	.	.	.	.	.	C	9.845	1.192204	0.21954	0.0	3.14E-4	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000398705;ENST00000536736;ENST00000441893;ENST00000398686;ENST00000414184	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.43	5.43	0.79202	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	.	.	.	.	T	0.39708	0.1088	N	0.16368	0.405	0.31743	N	0.635546	P;P;B	0.44734	0.842;0.507;0.233	B;B;B	0.31390	0.129;0.051;0.047	T	0.41016	-0.9532	9	0.13853	T	0.58	.	7.3133	0.26488	0.0:0.7102:0.1453:0.1445	.	1827;760;1611	F5GZB4;F8WA52;Q8IVV2	.;.;LOXH1_HUMAN	I	778;1611;128;1827;760;128;128	ENSP00000300591:V778I;ENSP00000381707:V1611I;ENSP00000381692:V128I;ENSP00000444586:V1827I;ENSP00000409062:V760I;ENSP00000381676:V128I;ENSP00000392440:V128I	ENSP00000300591:V778I	V	-	1	0	LOXHD1	42341526	0.871000	0.30034	0.562000	0.28370	0.449000	0.32228	1.499000	0.35671	2.561000	0.86390	0.561000	0.74099	GTC		0.577	LOXHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_144612	
TCEB3B	51224	hgsc.bcm.edu	37	18	44559563	44559563	+	Silent	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr18:44559563G>A	ENST00000332567.4	-	1	2425	c.2073C>T	c.(2071-2073)agC>agT	p.S691S	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	691					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						tgccaccgccgctgctgctCT	0.662																																																	0			18											33.0	38.0	36.0					18																	44559563		2201	4299	6500	42813561	SO:0001819	synonymous_variant	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.2073C>T	18.37:g.44559563G>A			42813561	Q9P2V9	Silent	SNP	ENST00000332567.4	37	CCDS11932.1																																																																																				0.662	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255900.1	NM_016427	
SERPINB5	5268	hgsc.bcm.edu	37	18	61170746	61170746	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr18:61170746A>G	ENST00000382771.4	+	7	1211	c.919A>G	c.(919-921)Atg>Gtg	p.M307V		NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	307					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.M307L(1)		kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTTCTCTGGAATGTCAGAGAC	0.433																																																	1	Substitution - Missense(1)	ovary(1)	18											96.0	82.0	87.0					18																	61170746		2203	4300	6503	59321726	SO:0001583	missense	5268			U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.919A>G	18.37:g.61170746A>G	ENSP00000372221:p.Met307Val		59321726	B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	A	14.43	2.534268	0.45073	.	.	ENSG00000206075	ENST00000382771	D	0.85171	-1.95	5.95	3.42	0.39159	Serpin domain (3);	0.211041	0.49305	D	0.000145	D	0.84737	0.5538	M	0.85710	2.77	0.80722	D	1	B	0.17268	0.021	B	0.15052	0.012	D	0.84628	0.0688	10	0.66056	D	0.02	.	9.64	0.39833	0.7218:0.1722:0.0:0.1059	.	307	P36952	SPB5_HUMAN	V	307	ENSP00000372221:M307V	ENSP00000372221:M307V	M	+	1	0	SERPINB5	59321726	0.995000	0.38212	1.000000	0.80357	0.970000	0.65996	3.365000	0.52335	2.285000	0.76669	0.533000	0.62120	ATG		0.433	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	NM_002639	
OXSM	54995	hgsc.bcm.edu	37	3	25832827	25832827	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:25832827T>C	ENST00000280701.3	+	2	415	c.316T>C	c.(316-318)Ttt>Ctt	p.F106L	OXSM_ENST00000420173.2_Missense_Mutation_p.F106L|OXSM_ENST00000449808.1_Intron|NGLY1_ENST00000417874.2_5'Flank	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	106			F -> I (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)	p.F106I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						TGAACAAAACTTTGTGTCCAA	0.448																																																	1	Substitution - Missense(1)	breast(1)	3											170.0	144.0	153.0					3																	25832827		2203	4300	6503	25807831	SO:0001583	missense	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.316T>C	3.37:g.25832827T>C	ENSP00000280701:p.Phe106Leu		25807831		Missense_Mutation	SNP	ENST00000280701.3	37	CCDS2643.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.021443	0.75275	.	.	ENSG00000151093	ENST00000452098;ENST00000280701;ENST00000420173;ENST00000428266	.	.	.	5.93	5.93	0.95920	Beta-ketoacyl synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	L	0.39633	1.23	0.80722	D	1	D;B	0.55385	0.971;0.023	P;B	0.48189	0.57;0.012	T	0.62969	-0.6741	9	0.87932	D	0	-21.5264	16.379	0.83439	0.0:0.0:0.0:1.0	.	106;106	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	L	106	.	ENSP00000280701:F106L	F	+	1	0	OXSM	25807831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.991000	0.88244	2.268000	0.75426	0.455000	0.32223	TTT		0.448	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897	
CACNA2D3	55799	hgsc.bcm.edu	37	3	54914866	54914866	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:54914866C>T	ENST00000474759.1	+	21	1936	c.1888C>T	c.(1888-1890)Cga>Tga	p.R630*	CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Nonsense_Mutation_p.R536*|CACNA2D3_ENST00000288197.5_Nonsense_Mutation_p.R630*|CACNA2D3_ENST00000415676.2_Nonsense_Mutation_p.R630*	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	630						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	ATATTTCTTCCGAGGGAATGT	0.478																																																	0			3											254.0	239.0	243.0					3																	54914866		1922	4132	6054	54889906	SO:0001587	stop_gained	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.1888C>T	3.37:g.54914866C>T	ENSP00000419101:p.Arg630*		54889906	B2RPL6|Q9NY16|Q9NY18	Nonsense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.661944|7.661944	0.98419|0.98419	.|.	.|.	ENSG00000157445|ENSG00000157445	ENST00000438476|ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	.|.	.|.	.|.	5.88|5.88	4.94|4.94	0.65067|0.65067	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.40815|.	0.1132|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42155|.	-0.9468|.	4|.	0.51188|0.10377	T|T	0.08|0.69	-0.7754|-0.7754	11.1578|11.1578	0.48497|0.48497	0.305:0.695:0.0:0.0|0.305:0.695:0.0:0.0	.|.	.|.	.|.	.|.	L|X	508|630;630;630;536;536	.|.	ENSP00000391808:P508L|ENSP00000288197:R630X	P|R	+|+	2|1	0|2	CACNA2D3|CACNA2D3	54889906|54889906	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	6.539000|6.539000	0.73856|0.73856	2.788000|2.788000	0.95919|0.95919	0.637000|0.637000	0.83480|0.83480	CCG|CGA		0.478	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1		
SLC15A2	6565	hgsc.bcm.edu	37	3	121615292	121615292	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:121615292A>G	ENST00000489711.1	+	2	533	c.145A>G	c.(145-147)Att>Gtt	p.I49V	SLC15A2_ENST00000295605.2_Missense_Mutation_p.I49V	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	49					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTGCCTTCATTGTGGTGAA	0.438																																																	0			3											168.0	155.0	159.0					3																	121615292		2203	4300	6503	123097982	SO:0001583	missense	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.145A>G	3.37:g.121615292A>G	ENSP00000417085:p.Ile49Val		123097982	A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	A	27.2	4.810758	0.90707	.	.	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	T;T	0.58060	0.36;0.36	5.52	5.52	0.82312	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	L	0.41124	1.26	0.80722	D	1	D;D	0.76494	0.999;0.989	D;D	0.81914	0.995;0.968	T	0.66654	-0.5869	10	0.87932	D	0	-18.0944	13.6447	0.62275	1.0:0.0:0.0:0.0	.	49;49	B4E2A7;Q16348	.;S15A2_HUMAN	V	49;42;49	ENSP00000417085:I49V;ENSP00000295605:I49V	ENSP00000295605:I49V	I	+	1	0	SLC15A2	123097982	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.605000	0.90883	2.320000	0.78422	0.528000	0.53228	ATT		0.438	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	
PIK3CA	5290	hgsc.bcm.edu	37	3	178927982	178927982	+	Silent	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:178927982T>C	ENST00000263967.3	+	8	1417	c.1260T>C	c.(1258-1260)tgT>tgC	p.C420C		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		C -> R (in CLOVE and CRC; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes). {ECO:0000269|PubMed:22658544}.		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)	AGGAACACTGTCCATTGGCAT	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"""	0			3											88.0	83.0	85.0					3																	178927982		1822	4079	5901	180410676	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.1260T>C	3.37:g.178927982T>C			180410676	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				0.328	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
PIK3CA	5290	hgsc.bcm.edu	37	3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	rs121913274		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:178936092A>G	ENST00000263967.3	+	10	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		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.E545A(96)|p.E545G(78)|p.E545V(4)		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)	GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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"""	178	Substitution - Missense(178)	breast(40)|large_intestine(39)|ovary(30)|endometrium(17)|skin(9)|urinary_tract(8)|upper_aerodigestive_tract(4)|central_nervous_system(4)|oesophagus(4)|stomach(4)|liver(4)|thyroid(3)|soft_tissue(3)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|NS(1)|eye(1)|pancreas(1)|prostate(1)|pituitary(1)	3											61.0	61.0	61.0					3																	178936092		1813	4072	5885	180418786	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.1634A>G	3.37:g.178936092A>G	ENSP00000263967:p.Glu545Gly		180418786	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.704887	0.88924	.	.	ENSG00000121879	ENST00000263967	T	0.64438	-0.1	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.76675	-0.2872	10	0.41790	T	0.15	-25.7963	16.1026	0.81194	1.0:0.0:0.0:0.0	.	545	P42336	PK3CA_HUMAN	G	545	ENSP00000263967:E545G	ENSP00000263967:E545G	E	+	2	0	PIK3CA	180418786	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	GAG		0.353	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-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	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		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		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
DVL3	1857	hgsc.bcm.edu	37	3	183884627	183884627	+	Silent	SNP	G	G	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:183884627G>T	ENST00000313143.3	+	11	1310	c.1062G>T	c.(1060-1062)cgG>cgT	p.R354R	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	354					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			AGCCCATCCGGCCCATTGACC	0.637																																																	0			3											76.0	73.0	74.0					3																	183884627		2203	4300	6503	185367321	SO:0001819	synonymous_variant	1857			D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1062G>T	3.37:g.183884627G>T			185367321	B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Silent	SNP	ENST00000313143.3	37	CCDS3253.1																																																																																				0.637	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423	
CD163	9332	hgsc.bcm.edu	37	12	7637927	7637927	+	Silent	SNP	G	G	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:7637927G>T	ENST00000359156.4	-	11	2746	c.2544C>A	c.(2542-2544)ggC>ggA	p.G848G	CD163_ENST00000396620.3_Silent_p.G881G|CD163_ENST00000541972.1_Silent_p.G836G|CD163_ENST00000432237.2_Silent_p.G848G|CD163_ENST00000539632.1_5'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	848	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TGCCAACAGTGCCCCAAGCTC	0.512																																																	0			12											113.0	105.0	108.0					12																	7637927		2203	4300	6503	7529194	SO:0001819	synonymous_variant	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2544C>A	12.37:g.7637927G>T			7529194	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	CCDS8578.1																																																																																				0.512	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
LDHB	3945	hgsc.bcm.edu	37	12	21796910	21796910	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:21796910T>C	ENST00000396076.1	-	4	712	c.380A>G	c.(379-381)aAg>aGg	p.K127R	LDHB_ENST00000350669.1_Missense_Mutation_p.K127R	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	127					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						AGGACTGTACTTGACGATCTG	0.408																																																	0			12											131.0	124.0	126.0					12																	21796910		2203	4300	6503	21688177	SO:0001583	missense	3945				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.380A>G	12.37:g.21796910T>C	ENSP00000379386:p.Lys127Arg		21688177		Missense_Mutation	SNP	ENST00000396076.1	37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	17.33	3.363460	0.61513	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075;ENST00000450584	D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49	5.69	5.69	0.88448	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.096535	0.64402	D	0.000002	D	0.88897	0.6562	L	0.60455	1.87	0.58432	D	0.999998	B	0.21821	0.061	B	0.32533	0.147	D	0.86298	0.1678	10	0.54805	T	0.06	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	127	P07195	LDHB_HUMAN	R	127	ENSP00000379386:K127R;ENSP00000229319:K127R;ENSP00000379385:K127R;ENSP00000398015:K127R	ENSP00000229319:K127R	K	-	2	0	LDHB	21688177	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.786000	0.62425	2.167000	0.68274	0.460000	0.39030	AAG		0.408	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2	NM_002300	
PKP2	5318	hgsc.bcm.edu	37	12	33031163	33031163	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:33031163G>T	ENST00000070846.6	-	3	675	c.651C>A	c.(649-651)taC>taA	p.Y217*	PKP2_ENST00000340811.4_Nonsense_Mutation_p.Y217*	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	217					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ACTGTCTGTGGTATGTGTCAA	0.632																																																	0			12											138.0	117.0	124.0					12																	33031163		2203	4300	6503	32922430	SO:0001587	stop_gained	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.651C>A	12.37:g.33031163G>T	ENSP00000070846:p.Tyr217*		32922430	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Nonsense_Mutation	SNP	ENST00000070846.6	37	CCDS8731.1	.	.	.	.	.	.	.	.	.	.	G	38	7.053094	0.98029	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	.	.	.	4.34	2.49	0.30216	.	1.300720	0.05181	N	0.501343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4173	6.4181	0.21728	0.3709:0.0:0.6291:0.0	.	.	.	.	X	217	.	ENSP00000070846:Y217X	Y	-	3	2	PKP2	32922430	0.002000	0.14202	0.063000	0.19743	0.968000	0.65278	0.424000	0.21330	0.308000	0.22923	0.650000	0.86243	TAC		0.632	PKP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404449.1	NM_004572	
LRRK2	120892	hgsc.bcm.edu	37	12	40715933	40715933	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:40715933A>G	ENST00000298910.7	+	36	5325	c.5267A>G	c.(5266-5268)gAc>gGc	p.D1756G		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1756					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GAAGTCTTAGACAATCATCCA	0.348																																																	0			12											74.0	77.0	76.0					12																	40715933		2203	4299	6502	39002200	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5267A>G	12.37:g.40715933A>G	ENSP00000298910:p.Asp1756Gly		39002200	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.473830	0.84640	.	.	ENSG00000188906	ENST00000298910	T	0.72051	-0.62	5.73	5.73	0.89815	.	0.153463	0.64402	D	0.000019	T	0.69700	0.3140	L	0.49778	1.585	0.58432	D	0.99999	P;P	0.48503	0.828;0.911	B;B	0.44163	0.272;0.443	T	0.74272	-0.3719	10	0.72032	D	0.01	.	16.0258	0.80545	1.0:0.0:0.0:0.0	.	1756;1756	Q17RV3;Q5S007	.;LRRK2_HUMAN	G	1756	ENSP00000298910:D1756G	ENSP00000298910:D1756G	D	+	2	0	LRRK2	39002200	1.000000	0.71417	0.884000	0.34674	0.987000	0.75469	6.806000	0.75195	2.184000	0.69523	0.454000	0.30748	GAC		0.348	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
TMPRSS12	283471	hgsc.bcm.edu	37	12	51237739	51237739	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:51237739G>A	ENST00000398458.3	+	2	334	c.302G>A	c.(301-303)cGt>cAt	p.R101H	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.R101H|RN7SL519P_ENST00000497925.2_RNA	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	101	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AAATATGGCCGTGTTCTTGTT	0.537																																																	0			12											51.0	54.0	53.0					12																	51237739		2055	4195	6250	49524006	SO:0001583	missense	283471			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.302G>A	12.37:g.51237739G>A	ENSP00000381476:p.Arg101His		49524006	B9ZVX2	Missense_Mutation	SNP	ENST00000398458.3	37	CCDS44881.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423768	0.25639	.	.	ENSG00000186452	ENST00000551456;ENST00000398458	T;T	0.60672	0.17;0.38	5.7	-9.64	0.00541	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.776020	0.02431	N	0.083571	T	0.39279	0.1072	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.0	B;B	0.11329	0.006;0.001	T	0.28650	-1.0037	10	0.44086	T	0.13	-0.0302	11.5077	0.50476	0.6665:0.0925:0.2411:0.0	.	101;101	F8WBX2;Q86WS5	.;TMPSC_HUMAN	H	101	ENSP00000447259:R101H;ENSP00000381476:R101H	ENSP00000381476:R101H	R	+	2	0	TMPRSS12	49524006	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.453000	0.02383	-1.552000	0.01704	-2.395000	0.00226	CGT		0.537	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	NM_182559	
SP1	6667	hgsc.bcm.edu	37	12	53775987	53775987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:53775987C>T	ENST00000327443.4	+	3	354	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	SP1_ENST00000426431.2_Nonsense_Mutation_p.Q79*	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	86	Ser/Thr-rich.				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|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 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)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GGGCCCGAGTCAGTCAGGGGG	0.582																																																	0			12											67.0	66.0	66.0					12																	53775987		2203	4300	6503	52062254	SO:0001587	stop_gained	199699			J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.256C>T	12.37:g.53775987C>T	ENSP00000329357:p.Gln86*		52062254	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Nonsense_Mutation	SNP	ENST00000327443.4	37	CCDS8857.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784565	0.49997	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	.	.	.	4.13	4.13	0.48395	.	0.000000	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	13.7852	0.63105	0.0:1.0:0.0:0.0	.	.	.	.	X	86;79	.	ENSP00000329357:Q86X	Q	+	1	0	SP1	52062254	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.869000	0.48444	2.306000	0.77630	0.467000	0.42956	CAG		0.582	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407044.1		
DDIT3	1649	hgsc.bcm.edu	37	12	57911116	57911116	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:57911116A>G	ENST00000346473.3	-	3	253	c.74T>C	c.(73-75)cTg>cCg	p.L25P	DDIT3_ENST00000547303.1_Missense_Mutation_p.L25P|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000551116.1_Missense_Mutation_p.L48P|DDIT3_ENST00000552740.1_Missense_Mutation_p.L48P	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	25	N-terminal.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.L25R(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						GACCTCTTGCAGGTCCTCATA	0.498			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)			Dom	yes		12	12q13.1-q13.2	1649	DNA-damage-inducible transcript 3		M	1	Substitution - Missense(1)	ovary(1)	12											65.0	59.0	61.0					12																	57911116		2203	4300	6503	56197383	SO:0001583	missense	1649			BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.74T>C	12.37:g.57911116A>G	ENSP00000340671:p.Leu25Pro		56197383	F8VS99	Missense_Mutation	SNP	ENST00000346473.3	37	CCDS8943.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.168545	0.78339	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740;ENST00000547526	T;T;T;T	0.70045	-0.36;-0.45;-0.36;-0.45	5.01	5.01	0.66863	.	0.000000	0.64402	D	0.000002	T	0.74215	0.3687	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.77159	-0.2690	10	0.87932	D	0	-2.6048	14.1539	0.65405	1.0:0.0:0.0:0.0	.	48;25	F8VS99;P35638	.;DDIT3_HUMAN	P	25;48;25;48;48	ENSP00000447188:L25P;ENSP00000448665:L48P;ENSP00000340671:L25P;ENSP00000447803:L48P	ENSP00000340671:L25P	L	-	2	0	DDIT3	56197383	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.141000	0.89618	2.240000	0.73641	0.533000	0.62120	CTG		0.498	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407137.1	NM_004083	
AVPR1A	552	hgsc.bcm.edu	37	12	63544123	63544123	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:63544123C>T	ENST00000299178.2	-	1	599	c.494G>A	c.(493-495)cGc>cAc	p.R165H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	165					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	GCGCGAGCGGCGCGCGGGCTG	0.622																																																	0			12											39.0	45.0	43.0					12																	63544123		2203	4298	6501	61830390	SO:0001583	missense	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.494G>A	12.37:g.63544123C>T	ENSP00000299178:p.Arg165His		61830390		Missense_Mutation	SNP	ENST00000299178.2	37	CCDS8965.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789019	0.70337	.	.	ENSG00000166148	ENST00000299178	T	0.42513	0.97	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.255608	0.41194	D	0.000935	T	0.56615	0.1997	M	0.72479	2.2	0.41131	D	0.985886	D	0.58268	0.982	D	0.65140	0.932	T	0.59161	-0.7506	9	.	.	.	-24.1646	7.1915	0.25828	0.0:0.8083:0.0:0.1917	.	165	P37288	V1AR_HUMAN	H	165	ENSP00000299178:R165H	.	R	-	2	0	AVPR1A	61830390	0.292000	0.24362	1.000000	0.80357	0.937000	0.57800	0.765000	0.26546	2.274000	0.75844	0.455000	0.32223	CGC		0.622	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
NTN4	59277	hgsc.bcm.edu	37	12	96181085	96181085	+	Missense_Mutation	SNP	G	G	A	rs34114770	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:96181085G>A	ENST00000343702.4	-	2	665	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W	NTN4_ENST00000538383.1_Missense_Mutation_p.R36W|NTN4_ENST00000344911.4_Missense_Mutation_p.R36W|NTN4_ENST00000553059.1_Missense_Mutation_p.R73W	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	73	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGGGCTGCCGACAAGTCAGA	0.537													G|||	11	0.00219649	0.0	0.0086	5008	,	,		20521	0.0		0.004	False		,,,				2504	0.001																0			12						G	TRP/ARG	2,4404	4.2+/-10.8	0,2,2201	131.0	96.0	108.0		217	3.9	1.0	12	dbSNP_126	108	46,8554	30.1+/-81.4	0,46,4254	yes	missense	NTN4	NM_021229.3	101	0,48,6455	AA,AG,GG		0.5349,0.0454,0.3691	probably-damaging	73/629	96181085	48,12958	2203	4300	6503	94705216	SO:0001583	missense	59277			AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.217C>T	12.37:g.96181085G>A	ENSP00000340998:p.Arg73Trp		94705216	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	8	0.003663003663003663	0	0.0	4	0.011049723756906077	0	0.0	4	0.005277044854881266	G	15.23	2.773331	0.49786	4.54E-4	0.005349	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.77	3.86	0.44501	Laminin, N-terminal (3);	0.516613	0.19514	N	0.112453	T	0.67335	0.2882	L	0.31371	0.925	0.09310	N	1	D;D	0.61080	0.986;0.989	P;P	0.49301	0.471;0.606	T	0.64757	-0.6332	10	0.44086	T	0.13	.	15.3528	0.74402	0.0:0.0:0.5182:0.4818	rs34114770	73;73	Q9HB63-2;Q9HB63	.;NET4_HUMAN	W	73;36;36;73;36	ENSP00000340998:R73W;ENSP00000339436:R36W;ENSP00000444432:R36W;ENSP00000447292:R73W;ENSP00000447594:R36W	ENSP00000340998:R73W	R	-	1	2	NTN4	94705216	0.004000	0.15560	1.000000	0.80357	0.960000	0.62799	0.263000	0.18478	1.413000	0.46997	0.555000	0.69702	CGG		0.537	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408372.1	NM_021229	
CDK17	5128	hgsc.bcm.edu	37	12	96688846	96688846	+	Silent	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr12:96688846A>G	ENST00000261211.3	-	10	1531	c.928T>C	c.(928-930)Ttg>Ctg	p.L310L	CDK17_ENST00000543119.2_Silent_p.L310L|CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Silent_p.L257L	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	310	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TCTCGATGCAATACCTTTCTT	0.338																																																	0			12											133.0	126.0	128.0					12																	96688846		2203	4299	6502	95212977	SO:0001819	synonymous_variant	0				CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.928T>C	12.37:g.96688846A>G			95212977	A8K1U6|B2RCQ2|Q8NEB8	Silent	SNP	ENST00000261211.3	37	CCDS9061.1																																																																																				0.338	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595	
GABRG3	2567	hgsc.bcm.edu	37	15	27572176	27572176	+	Splice_Site	SNP	G	G	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr15:27572176G>C	ENST00000333743.6	+	4	745	c.491G>C	c.(490-492)aGg>aCg	p.R164T	GABRG3_ENST00000555083.1_Splice_Site_p.R164T	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	164					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R164M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACACTTTGAGGTAAGATGCT	0.423																																					NSCLC(114;800 1656 7410 37729 45293)												1	Substitution - Missense(1)	lung(1)	15											35.0	34.0	34.0					15																	27572176		1920	4157	6077	25154922	SO:0001630	splice_region_variant	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.491+1G>C	15.37:g.27572176G>C			25154922	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	G	18.02	3.529233	0.64860	.	.	ENSG00000182256	ENST00000333743;ENST00000555083;ENST00000554696	D;D;D	0.81821	-1.54;-1.54;-1.54	5.69	5.69	0.88448	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93491	0.7923	H	0.97131	3.945	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.74023	0.982;0.966	D	0.95249	0.8358	10	0.87932	D	0	.	18.8001	0.92013	0.0:0.0:1.0:0.0	.	164;164	Q99928;G3V594	GBRG3_HUMAN;.	T	164;164;106	ENSP00000331912:R164T;ENSP00000452244:R164T;ENSP00000451862:R106T	ENSP00000331912:R164T	R	+	2	0	GABRG3	25154922	1.000000	0.71417	0.978000	0.43139	0.066000	0.16364	9.539000	0.98076	2.664000	0.90586	0.655000	0.94253	AGG		0.423	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2		Missense_Mutation
CATSPER2	117155	hgsc.bcm.edu	37	15	43940168	43940168	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr15:43940168T>C	ENST00000321596.5	-	2	291	c.92A>G	c.(91-93)cAt>cGt	p.H31R	CATSPER2_ENST00000381761.1_Missense_Mutation_p.H37R|CATSPER2_ENST00000396879.1_Missense_Mutation_p.H31R|CATSPER2_ENST00000355438.2_Missense_Mutation_p.H31R|CATSPER2_ENST00000464721.1_Intron|CATSPER2_ENST00000354127.4_Missense_Mutation_p.H31R|STRC_ENST00000541030.1_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	31					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)	p.H31L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GCCTTGCAAATGCTCAATGAG	0.473																																																	1	Substitution - Missense(1)	ovary(1)	15											183.0	181.0	182.0					15																	43940168		2199	4296	6495	41727460	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.92A>G	15.37:g.43940168T>C	ENSP00000321463:p.His31Arg		41727460	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.694243	0.48202	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438;ENST00000432420;ENST00000409481;ENST00000419473	T;T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25;1.25	2.64	2.64	0.31445	.	2.597920	0.01853	N	0.036089	T	0.60157	0.2247	M	0.73598	2.24	0.29336	N	0.866362	D;D;D	0.76494	0.999;0.998;0.997	D;D;P	0.71184	0.972;0.935;0.863	T	0.18053	-1.0349	10	0.48119	T	0.1	.	7.0877	0.25267	0.0:0.0:0.0:1.0	.	31;37;31	Q96P56-4;F8W9H2;Q96P56	.;.;CTSR2_HUMAN	R	31;31;37;31;31;31;31;31;31	ENSP00000380088:H31R;ENSP00000371180:H37R;ENSP00000321463:H31R;ENSP00000339137:H31R;ENSP00000347613:H31R;ENSP00000407694:H31R;ENSP00000386595:H31R	ENSP00000299989:H31R	H	-	2	0	CATSPER2	41727460	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	3.580000	0.53907	1.219000	0.43474	0.155000	0.16302	CAT		0.473	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
DMXL2	23312	hgsc.bcm.edu	37	15	51829848	51829848	+	Missense_Mutation	SNP	G	G	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr15:51829848G>T	ENST00000251076.5	-	11	1741	c.1454C>A	c.(1453-1455)cCa>cAa	p.P485Q	DMXL2_ENST00000543779.2_Missense_Mutation_p.P485Q|DMXL2_ENST00000449909.3_Missense_Mutation_p.P485Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	485						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGTAGGCAGTGGCATTGGTAC	0.433																																																	0			15											238.0	196.0	210.0					15																	51829848		2195	4293	6488	49617140	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.1454C>A	15.37:g.51829848G>T	ENSP00000251076:p.Pro485Gln		49617140	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713118	0.89112	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.38722	1.12;1.12;1.12	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.63390	0.2507	M	0.64997	1.995	0.38600	D	0.950631	D;D;D	0.89917	0.993;1.0;0.969	P;D;P	0.83275	0.876;0.996;0.656	T	0.67082	-0.5760	10	0.51188	T	0.08	.	18.3459	0.90322	0.0:0.0:1.0:0.0	.	485;485;485	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	Q	485	ENSP00000251076:P485Q;ENSP00000441858:P485Q;ENSP00000400855:P485Q	ENSP00000251076:P485Q	P	-	2	0	DMXL2	49617140	1.000000	0.71417	0.971000	0.41717	0.960000	0.62799	9.386000	0.97228	2.337000	0.79520	0.650000	0.86243	CCA		0.433	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
FAM214A	56204	hgsc.bcm.edu	37	15	52905979	52905979	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr15:52905979C>T	ENST00000261844.7	-	3	244	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	FAM214A_ENST00000546305.2_Missense_Mutation_p.R38Q	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	31																	TTCAGGTGTTCGTCCTTCTGT	0.413																																																	0			15											129.0	121.0	123.0					15																	52905979		1916	4119	6035	50693271	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.92G>A	15.37:g.52905979C>T	ENSP00000261844:p.Arg31Gln		50693271	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	36	5.704274	0.96812	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.66099	-0.17;-0.19	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	L	0.59436	1.845	0.49798	D	0.999827	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.78481	-0.2187	10	0.87932	D	0	-9.2382	20.3186	0.98660	0.0:1.0:0.0:0.0	.	38;31	F5H8G0;Q32MH5	.;K1370_HUMAN	Q	31;31;30;38	ENSP00000261844:R31Q;ENSP00000443598:R38Q	ENSP00000261844:R31Q	R	-	2	0	KIAA1370	50693271	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.294000	0.78760	2.798000	0.96311	0.579000	0.79373	CGA		0.413	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
MYZAP	100820829	hgsc.bcm.edu	37	15	57910379	57910379	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr15:57910379T>C	ENST00000267853.5	+	3	405	c.311T>C	c.(310-312)aTc>aCc	p.I104T	GCOM1_ENST00000574161.1_Missense_Mutation_p.I104T|GCOM1_ENST00000572390.1_Missense_Mutation_p.I104T|GCOM1_ENST00000380569.2_Missense_Mutation_p.I104T|GCOM1_ENST00000380560.2_Missense_Mutation_p.I104T|MYZAP_ENST00000380565.4_Missense_Mutation_p.I104T|GCOM1_ENST00000587652.1_Missense_Mutation_p.I104T|GCOM1_ENST00000380568.3_Missense_Mutation_p.I104T|GCOM1_ENST00000380561.2_Missense_Mutation_p.I104T|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000396180.1_Missense_Mutation_p.I104T			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	104					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											ATGAACTACATCAAAGATGTG	0.418																																																	0			15											165.0	148.0	154.0					15																	57910379		2192	4292	6484	55697671	SO:0001583	missense	145781			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.311T>C	15.37:g.57910379T>C	ENSP00000267853:p.Ile104Thr		55697671	D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Missense_Mutation	SNP	ENST00000267853.5	37	CCDS10162.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.023186	0.75275	.	.	ENSG00000137878	ENST00000380569;ENST00000380561;ENST00000396180;ENST00000380560;ENST00000267853;ENST00000380565;ENST00000380568	T;T;T;T;T;T;T	0.36340	1.26;1.36;1.41;1.63;1.26;1.26;1.26	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.58352	0.2116	M	0.63843	1.955	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.998;0.999	T	0.57394	-0.7819	10	0.49607	T	0.09	-21.5521	15.8048	0.78491	0.0:0.0:0.0:1.0	.	104;104;104;104	P0CAP1-2;P0CAP1-11;P0CAP1-4;P0CAP1	.;.;.;GCOM1_HUMAN	T	104	ENSP00000369943:I104T;ENSP00000369935:I104T;ENSP00000379483:I104T;ENSP00000369933:I104T;ENSP00000267853:I104T;ENSP00000369939:I104T;ENSP00000369942:I104T	ENSP00000267853:I104T	I	+	2	0	GCOM1	55697671	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	6.068000	0.71201	2.371000	0.80710	0.533000	0.62120	ATC		0.418	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255716.2	NM_001018100	
ARSH	347527	hgsc.bcm.edu	37	X	2945415	2945415	+	Silent	SNP	G	G	A	rs373570475		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:2945415G>A	ENST00000381130.2	+	7	1098	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	366					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCCGGTGGCCGTCAGTCTTGG	0.507													G|||	1	0.000264901	0.0	0.0	3775	,	,		13554	0.0		0.001	False		,,,				2504	0.0																0			X						G		0,3835		0,0,0,1632,571	182.0	141.0	155.0		1098	-0.2	0.2	X		155	1,6727		0,0,1,2428,1871	no	coding-synonymous	ARSH	NM_001011719.1		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		366/563	2945415	1,10562	2203	4300	6503	2955415	SO:0001819	synonymous_variant	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1098G>A	X.37:g.2945415G>A			2955415		Silent	SNP	ENST00000381130.2	37	CCDS35198.1																																																																																				0.507	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1	NM_001011719	
TLR8	51311	hgsc.bcm.edu	37	X	12938881	12938881	+	Silent	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:12938881A>G	ENST00000218032.6	+	2	1809	c.1722A>G	c.(1720-1722)acA>acG	p.T574T	TLR8_ENST00000311912.5_Silent_p.T592T	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	574					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.T592T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAGGCGTAACACATCATCTAG	0.328																																																	1	Substitution - coding silent(1)	ovary(1)	X											42.0	43.0	42.0					X																	12938881		2203	4297	6500	12848802	SO:0001819	synonymous_variant	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1722A>G	X.37:g.12938881A>G			12848802	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	CCDS14152.1																																																																																				0.328	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
TLR8	51311	hgsc.bcm.edu	37	X	12939056	12939056	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:12939056T>C	ENST00000218032.6	+	2	1984	c.1897T>C	c.(1897-1899)Tcc>Ccc	p.S633P	TLR8_ENST00000311912.5_Missense_Mutation_p.S651P	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	633					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S651T(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CAGGTATATCTCCATTTTCAA	0.403																																																	1	Substitution - Missense(1)	ovary(1)	X											60.0	59.0	60.0					X																	12939056		2202	4298	6500	12848977	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1897T>C	X.37:g.12939056T>C	ENSP00000218032:p.Ser633Pro		12848977	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	T	3.559	-0.090147	0.07053	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.80214	-1.35;-1.35	5.82	-11.6	0.00059	.	1.256240	0.06147	N	0.673473	T	0.63534	0.2519	L	0.46157	1.445	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.52124	-0.8617	10	0.59425	D	0.04	.	0.3231	0.00306	0.3073:0.1443:0.206:0.3424	.	633;651	Q9NR97;D1CS70	TLR8_HUMAN;.	P	633;651	ENSP00000218032:S633P;ENSP00000312082:S651P	ENSP00000218032:S633P	S	+	1	0	TLR8	12848977	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.852000	0.04308	-1.861000	0.01153	0.486000	0.48141	TCC		0.403	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
RPS6KA3	6197	hgsc.bcm.edu	37	X	20185861	20185861	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:20185861T>C	ENST00000379565.3	-	17	1655	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	RPS6KA3_ENST00000544447.1_Missense_Mutation_p.Y455C|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.Y453C|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.Y454C	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	483	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Y -> C (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.Y483C(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	TCCATCATCATATACCTATAA	0.284																																																	1	Substitution - Missense(1)	stomach(1)	X	GRCh37	CD011196	RPS6KA3	D							108.0	118.0	115.0					X																	20185861		2203	4298	6501	20095782	SO:0001583	missense	6197			U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1448A>G	X.37:g.20185861T>C	ENSP00000368884:p.Tyr483Cys		20095782	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Missense_Mutation	SNP	ENST00000379565.3	37	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.492161	0.64074	.	.	ENSG00000177189	ENST00000379565;ENST00000544447;ENST00000379548;ENST00000540702	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	5.61	5.61	0.85477	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	0.55386	0.1917	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.76494	0.999;0.995;0.997;0.998	D;D;D;D	0.72338	0.975;0.923;0.963;0.977	T	0.58498	-0.7626	10	0.87932	D	0	.	14.8128	0.70008	0.0:0.0:0.0:1.0	.	454;453;455;483	B4DG22;F5GYC4;B7ZB17;P51812	.;.;.;KS6A3_HUMAN	C	483;455;453;454	ENSP00000368884:Y483C;ENSP00000440220:Y455C;ENSP00000368865:Y453C;ENSP00000444837:Y454C	ENSP00000368865:Y453C	Y	-	2	0	RPS6KA3	20095782	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.170000	0.71920	1.880000	0.54463	0.417000	0.27973	TAT		0.284	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
PTCHD1	139411	hgsc.bcm.edu	37	X	23411677	23411677	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:23411677T>C	ENST00000379361.4	+	3	2902	c.2042T>C	c.(2041-2043)gTc>gCc	p.V681A		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	681					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGTTCATCGTCTTCAATCCG	0.483																																																	0			X											91.0	82.0	85.0					X																	23411677		2203	4300	6503	23321598	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2042T>C	X.37:g.23411677T>C	ENSP00000368666:p.Val681Ala		23321598	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	14.08	2.429925	0.43122	.	.	ENSG00000165186	ENST00000379361	D	0.88509	-2.39	5.34	5.34	0.76211	.	0.059808	0.64402	D	0.000002	D	0.84606	0.5509	L	0.34521	1.04	0.41461	D	0.988041	B	0.23937	0.094	B	0.32149	0.141	T	0.80369	-0.1411	10	0.25106	T	0.35	.	14.3778	0.66889	0.0:0.0:0.0:1.0	.	681	Q96NR3	PTHD1_HUMAN	A	681	ENSP00000368666:V681A	ENSP00000368666:V681A	V	+	2	0	PTCHD1	23321598	1.000000	0.71417	0.986000	0.45419	0.997000	0.91878	7.694000	0.84235	1.775000	0.52247	0.430000	0.28490	GTC		0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
IL1RAPL1	11141	hgsc.bcm.edu	37	X	29938089	29938089	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:29938089A>G	ENST00000378993.1	+	8	1608	c.935A>G	c.(934-936)gAa>gGa	p.E312G	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.E312G	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	312	Ig-like C2-type 3.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.E312A(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CATCTTGGGGAACAGGAAGTT	0.383																																																	1	Substitution - Missense(1)	ovary(1)	X											208.0	177.0	187.0					X																	29938089		2202	4300	6502	29848010	SO:0001583	missense	11141			AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.935A>G	X.37:g.29938089A>G	ENSP00000368278:p.Glu312Gly		29848010	A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503756	0.85176	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.13196	2.61;2.61	5.91	5.91	0.95273	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.38558	0.1045	M	0.75447	2.3	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.12863	-1.0531	9	.	.	.	.	15.3142	0.74059	1.0:0.0:0.0:0.0	.	312	Q9NZN1	IRPL1_HUMAN	G	312	ENSP00000368278:E312G;ENSP00000305200:E312G	.	E	+	2	0	IL1RAPL1	29848010	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.962000	0.93254	2.000000	0.58554	0.425000	0.28330	GAA		0.383	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271	
ERCC6L	54821	hgsc.bcm.edu	37	X	71425229	71425229	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:71425229C>T	ENST00000334463.3	-	2	3523	c.3388G>A	c.(3388-3390)Ggg>Agg	p.G1130R	PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000373657.1_Missense_Mutation_p.G1007R	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	1130					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TCCTCCACCCCTTCTTCTGGA	0.473																																																	0			X											104.0	94.0	97.0					X																	71425229		2203	4300	6503	71341954	SO:0001583	missense	54821			AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.3388G>A	X.37:g.71425229C>T	ENSP00000334675:p.Gly1130Arg		71341954	Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387981	0.25118	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90563	-2.66;-2.69	5.22	4.33	0.51752	.	.	.	.	.	D	0.85750	0.5769	L	0.44542	1.39	0.09310	N	0.999999	B	0.29085	0.232	B	0.21360	0.034	T	0.73209	-0.4055	9	0.31617	T	0.26	-1.5171	12.2791	0.54753	0.0:0.8269:0.1731:0.0	.	1130	Q2NKX8	ERC6L_HUMAN	R	1007;1130	ENSP00000362761:G1007R;ENSP00000334675:G1130R	ENSP00000334675:G1130R	G	-	1	0	ERCC6L	71341954	0.600000	0.26899	0.004000	0.12327	0.023000	0.10783	2.486000	0.45259	0.943000	0.37553	0.594000	0.82650	GGG		0.473	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669	
ZDHHC15	158866	hgsc.bcm.edu	37	X	74742741	74742741	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:74742741A>G	ENST00000373367.3	-	1	349	c.119T>C	c.(118-120)gTc>gCc	p.V40A	ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.V40A|ZDHHC15_ENST00000541184.1_Missense_Mutation_p.V40A	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	40					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						GAGTTCAAAGACGTAGGCATA	0.562																																																	0			X											102.0	79.0	87.0					X																	74742741		2203	4300	6503	74659466	SO:0001583	missense	158866			AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.119T>C	X.37:g.74742741A>G	ENSP00000362465:p.Val40Ala		74659466	B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	CCDS14430.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.010171	0.75046	.	.	ENSG00000102383	ENST00000373367;ENST00000541184;ENST00000373361	T;T;T	0.76839	0.7;0.98;-1.05	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.87075	0.6087	M	0.79926	2.475	0.80722	D	1	D;P;B	0.67145	0.996;0.928;0.096	D;P;B	0.75484	0.986;0.609;0.031	D	0.86510	0.1809	10	0.34782	T	0.22	-15.1225	12.4271	0.55553	1.0:0.0:0.0:0.0	.	40;40;40	Q96MV8-2;B3KVG7;Q96MV8	.;.;ZDH15_HUMAN	A	40	ENSP00000362465:V40A;ENSP00000445420:V40A;ENSP00000362459:V40A	ENSP00000362459:V40A	V	-	2	0	ZDHHC15	74659466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.618000	0.83043	1.840000	0.53500	0.430000	0.28490	GTC		0.562	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969	
ATRX	546	hgsc.bcm.edu	37	X	76888871	76888871	+	Splice_Site	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chrX:76888871A>G	ENST00000373344.5	-	19	5172	c.4958T>C	c.(4957-4959)gTt>gCt	p.V1653A	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.V1615A	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1653	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TAATTCAGAAACCTTTTGTGG	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)	X											152.0	150.0	150.0					X																	76888871		2203	4295	6498	76775527	SO:0001630	splice_region_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.4957-1T>C	X.37:g.76888871A>G			76775527	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	A	17.08	3.296572	0.60086	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	D;D	0.94931	-3.56;-3.56	5.83	5.83	0.93111	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000003	D	0.96944	0.9002	M	0.74546	2.27	0.80722	D	1	D;D	0.89917	0.99;1.0	D;D	0.85130	0.968;0.997	D	0.97490	1.0053	10	0.87932	D	0	-4.7117	15.0984	0.72253	1.0:0.0:0.0:0.0	.	1615;1653	P46100-4;P46100	.;ATRX_HUMAN	A	1653;1615	ENSP00000362441:V1653A;ENSP00000378967:V1615A	ENSP00000362441:V1653A	V	-	2	0	ATRX	76775527	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.569000	0.90744	1.949000	0.56562	0.481000	0.45027	GTT		0.353	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Missense_Mutation
CPLX1	10815	hgsc.bcm.edu	37	4	780337	780337	+	Silent	SNP	G	G	A	rs377036276		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr4:780337G>A	ENST00000304062.6	-	4	588	c.357C>T	c.(355-357)acC>acT	p.T119T	CPLX1_ENST00000505203.1_Silent_p.T98T	NM_006651.3	NP_006642.1	O14810	CPLX1_HUMAN	complexin 1	119					exocytosis (GO:0006887)|glutamate secretion (GO:0014047)|insulin secretion (GO:0030073)|neurotransmitter secretion (GO:0007269)|regulation of exocytosis (GO:0017157)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|synapse (GO:0045202)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-3-complexin complex (GO:0070554)	neurotransmitter transporter activity (GO:0005326)			kidney(1)|lung(2)	3				Colorectal(103;0.187)		ACTTGATGACGGTGTCCAGGA	0.701																																																	0			4											28.0	31.0	30.0					4																	780337		2201	4296	6497	770337	SO:0001819	synonymous_variant	10815			AF022383	CCDS46995.1	4p16.3	2008-08-07			ENSG00000168993	ENSG00000168993			2309	protein-coding gene	gene with protein product		605032				7553862	Standard	NM_006651		Approved	CPX-I	uc003gbi.3	O14810	OTTHUMG00000160005	ENST00000304062.6:c.357C>T	4.37:g.780337G>A			770337	A6NI80|B2R4R5|D3DVN3|F1T0G1	Silent	SNP	ENST00000304062.6	37	CCDS46995.1																																																																																				0.701	CPLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358830.1		
JAKMIP1	152789	hgsc.bcm.edu	37	4	6037771	6037771	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr4:6037771C>T	ENST00000409021.3	-	19	2688	c.2239G>A	c.(2239-2241)Ggt>Agt	p.G747S	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.G562S	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	103					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCGCCTCACCGGCCCTCCGC	0.642																																																	0			4											10.0	13.0	12.0					4																	6037771		2067	4128	6195	6088672	SO:0001583	missense	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2239G>A	4.37:g.6037771C>T	ENSP00000386711:p.Gly747Ser		6088672	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000409021.3	37	CCDS47005.1	.	.	.	.	.	.	.	.	.	.	C	5.571	0.290203	0.10567	.	.	ENSG00000152969	ENST00000409021;ENST00000409371	T;T	0.27890	2.07;1.64	4.79	0.36	0.16097	.	0.116804	0.31071	U	0.008301	T	0.14270	0.0345	.	.	.	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.12156	0.001;0.007	T	0.17379	-1.0371	9	0.09338	T	0.73	.	8.7426	0.34567	0.0:0.4719:0.0:0.5281	.	562;747	Q96N16-5;Q96N16-2	.;.	S	747;562	ENSP00000386711:G747S;ENSP00000387042:G562S	ENSP00000386711:G747S	G	-	1	0	JAKMIP1	6088672	0.998000	0.40836	0.776000	0.31678	0.438000	0.31896	1.588000	0.36633	0.089000	0.17243	0.436000	0.28706	GGT		0.642	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720	
HNRNPDL	9987	hgsc.bcm.edu	37	4	83349484	83349484	+	Silent	SNP	T	T	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr4:83349484T>G	ENST00000295470.5	-	2	734	c.559A>C	c.(559-561)Aga>Cga	p.R187R	HNRNPDL_ENST00000602300.1_Silent_p.R68R|ENOPH1_ENST00000509635.1_5'Flank|HNRNPDL_ENST00000349655.4_Silent_p.R68R|ENOPH1_ENST00000273920.3_5'Flank|HNRNPDL_ENST00000514511.1_Intron|HNRNPDL_ENST00000502762.1_Silent_p.R187R	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1	O14979	HNRDL_HUMAN	heterogeneous nuclear ribonucleoprotein D-like	187	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|single-stranded DNA binding (GO:0003697)										CCTCTTGATCTCCCAGTGACT	0.408																																																	0			4											138.0	134.0	135.0					4																	83349484		2203	4300	6503	83568508	SO:0001819	synonymous_variant	9987			D89092	CCDS3593.1, CCDS75153.1	4q21.22	2013-06-12		2013-06-12	ENSG00000152795	ENSG00000152795		"""RNA binding motif (RRM) containing"""	5037	protein-coding gene	gene with protein product		607137		HNRPDL		10072754, 9524220	Standard	NM_001207000		Approved	JKTBP, laAUF1	uc003hmr.3	O14979	OTTHUMG00000130299	ENST00000295470.5:c.559A>C	4.37:g.83349484T>G			83568508	Q6SPF2|Q7KZ74|Q7KZ75|Q96IM0|Q96S43	Silent	SNP	ENST00000295470.5	37	CCDS3593.1																																																																																				0.408	HNRNPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252644.1	NM_005463	
ARHGAP10	79658	hgsc.bcm.edu	37	4	148800446	148800446	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr4:148800446A>G	ENST00000336498.3	+	9	1135	c.896A>G	c.(895-897)aAg>aGg	p.K299R	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCAGCAAAGAAGTTCAACATG	0.393																																																	0			4											154.0	146.0	149.0					4																	148800446		2203	4300	6503	149019896	SO:0001583	missense	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.896A>G	4.37:g.148800446A>G	ENSP00000336923:p.Lys299Arg		149019896	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	8.749	0.920871	0.17982	.	.	ENSG00000071205	ENST00000336498	T	0.42513	0.97	5.1	3.86	0.44501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.228786	0.47455	N	0.000240	T	0.25680	0.0625	L	0.31065	0.9	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06698	-1.0812	10	0.18710	T	0.47	.	5.7181	0.17972	0.7384:0.1637:0.0979:0.0	.	299	A1A4S6	RHG10_HUMAN	R	299	ENSP00000336923:K299R	ENSP00000336923:K299R	K	+	2	0	ARHGAP10	149019896	0.995000	0.38212	0.999000	0.59377	0.990000	0.78478	1.641000	0.37197	0.716000	0.32124	0.459000	0.35465	AAG		0.393	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
FBXW7	55294	hgsc.bcm.edu	37	4	153245445	153245445	+	Silent	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr4:153245445C>T	ENST00000281708.4	-	11	2975	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S	FBXW7_ENST00000393956.3_Silent_p.S406S|FBXW7_ENST00000603548.1_Silent_p.S582S|FBXW7_ENST00000263981.5_Silent_p.S502S|FBXW7_ENST00000296555.5_Silent_p.S464S|FBXW7_ENST00000603841.1_Silent_p.S582S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	582			S -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CACTTGTTAACGACTGGTGCC	0.413			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											149.0	126.0	133.0					4																	153245445		2203	4300	6503	153464895	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1746G>A	4.37:g.153245445C>T			153464895	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.413	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
MARCH1	55016	hgsc.bcm.edu	37	4	164507069	164507069	+	Silent	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr4:164507069G>A	ENST00000503008.1	-	6	1231	c.255C>T	c.(253-255)tgC>tgT	p.C85C	MARCH1_ENST00000339875.5_Silent_p.C68C|MARCH1_ENST00000274056.7_Silent_p.C85C|MARCH1_ENST00000514618.1_Silent_p.C341C	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	85					antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C68C(1)|p.C85C(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CATCCCCTTCGCAGTGACAGA	0.527																																																	2	Substitution - coding silent(2)	lung(2)	4											55.0	54.0	54.0					4																	164507069		2203	4300	6503	164726519	SO:0001819	synonymous_variant	55016			AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.255C>T	4.37:g.164507069G>A			164726519	D3DP29|Q9NWR0	Silent	SNP	ENST00000503008.1	37	CCDS54814.1																																																																																				0.527	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2	NM_017923	
SORBS2	8470	hgsc.bcm.edu	37	4	186598368	186598368	+	Intron	SNP	G	G	A	rs532231815		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr4:186598368G>A	ENST00000284776.7	-	4	465				SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000437304.2_Missense_Mutation_p.P92L|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000449407.2_Intron|RP11-626E13.1_ENST00000447277.1_RNA	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GAGAAATGACGGTACTTCGAC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19750	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(153;41 2433 9491 36028)												0			4											143.0	128.0	133.0					4																	186598368		692	1591	2283	186835362	SO:0001627	intron_variant	8470				CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.44+1208C>T	4.37:g.186598368G>A			186835362	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	3.975	-0.007579	0.07773	.	.	ENSG00000154556	ENST00000437304	T	0.48836	0.8	5.91	5.07	0.68467	.	.	.	.	.	T	0.30103	0.0754	N	0.08118	0	0.45979	D	0.998795	B	0.11235	0.004	B	0.04013	0.001	T	0.09314	-1.0680	9	0.72032	D	0.01	.	13.3695	0.60705	0.0723:0.0:0.9277:0.0	.	92	E9PAW4	.	L	92	ENSP00000396008:P92L	ENSP00000396008:P92L	P	-	2	0	SORBS2	186835362	0.700000	0.27796	0.005000	0.12908	0.064000	0.16182	3.098000	0.50259	1.505000	0.48720	0.655000	0.94253	CCG		0.483	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603	
PXDN	7837	hgsc.bcm.edu	37	2	1677555	1677555	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:1677555C>T	ENST00000252804.4	-	9	928	c.878G>A	c.(877-879)cGc>cAc	p.R293H	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	293	Ig-like C2-type 1.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAAGTTTAGGCGGGAATCTGT	0.507																																																	0			2											124.0	126.0	125.0					2																	1677555		2055	4200	6255	1656562	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.878G>A	2.37:g.1677555C>T	ENSP00000252804:p.Arg293His		1656562	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.0|23.0	4.356500|4.356500	0.82243|0.82243	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000433670|ENST00000252804	.|T	.|0.51574	.|0.7	5.25|5.25	5.25|5.25	0.73442|0.73442	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.056903	.|0.64402	.|D	.|0.000001	T|T	0.65637|0.65637	0.2710|0.2710	L|L	0.57536|0.57536	1.79|1.79	0.58432|0.58432	D|D	0.999998|0.999998	.|D;P	.|0.76494	.|0.999;0.58	.|D;B	.|0.70016	.|0.967;0.187	T|T	0.68078|0.68078	-0.5504|-0.5504	5|10	.|0.87932	.|D	.|0	-30.6332|-30.6332	17.3575|17.3575	0.87341|0.87341	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|293;293	.|Q92626-2;Q92626	.|.;PXDN_HUMAN	T|H	289|293	.|ENSP00000252804:R293H	.|ENSP00000252804:R293H	A|R	-|-	1|2	0|0	PXDN|PXDN	1656562|1656562	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.525000|0.525000	0.34531|0.34531	7.683000|7.683000	0.84093|0.84093	2.583000|2.583000	0.87209|0.87209	0.561000|0.561000	0.74099|0.74099	GCC|CGC		0.507	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
CHST10	9486	hgsc.bcm.edu	37	2	101009849	101009849	+	Missense_Mutation	SNP	G	G	A	rs367887748		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:101009849G>A	ENST00000264249.3	-	7	1314	c.929C>T	c.(928-930)cCg>cTg	p.P310L	CHST10_ENST00000542617.1_Missense_Mutation_p.P358L|CHST10_ENST00000409701.1_Missense_Mutation_p.P310L	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	310					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GGTAATGCCCGGAGGGATAGT	0.527																																																	0			2											152.0	130.0	138.0					2																	101009849		2203	4300	6503	100376281	SO:0001583	missense	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.929C>T	2.37:g.101009849G>A	ENSP00000264249:p.Pro310Leu		100376281	Q53T18	Missense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213075	0.39102	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701	T;T;T	0.73047	1.92;-0.71;1.92	5.7	4.83	0.62350	.	0.138669	0.64402	N	0.000002	T	0.67664	0.2917	M	0.63843	1.955	0.80722	D	1	B	0.26258	0.145	B	0.23018	0.043	T	0.65199	-0.6226	10	0.38643	T	0.18	-14.4906	14.7123	0.69241	0.0695:0.0:0.9305:0.0	.	310	O43529	CHSTA_HUMAN	L	310;358;310	ENSP00000264249:P310L;ENSP00000438869:P358L;ENSP00000387309:P310L	ENSP00000264249:P310L	P	-	2	0	CHST10	100376281	1.000000	0.71417	0.175000	0.22980	0.376000	0.30014	6.793000	0.75130	1.430000	0.47334	0.655000	0.94253	CCG		0.527	CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
SCTR	6344	hgsc.bcm.edu	37	2	120194857	120194857	+	IGR	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:120194857C>T	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_Silent_p.S150S|TMEM37_ENST00000306406.4_Silent_p.S138S|TMEM37_ENST00000465296.1_3'UTR	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	TCGTCCTCTCCTCCGGCGGGC	0.557																																																	0			2											177.0	178.0	178.0					2																	120194857		2203	4300	6503	119911327	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194857C>T			119911327	Q12961|Q13213|Q53T00	Silent	SNP	ENST00000019103.5	37	CCDS2127.1																																																																																				0.557	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
CNTNAP5	129684	hgsc.bcm.edu	37	2	125521571	125521571	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:125521571G>A	ENST00000431078.1	+	16	2741	c.2377G>A	c.(2377-2379)Gtc>Atc	p.V793I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	793	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.V793I(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CTGGAACGCCGTCTCATTTTA	0.428																																																	2	Substitution - Missense(2)	prostate(2)	2											128.0	121.0	123.0					2																	125521571		1867	4092	5959	125238041	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2377G>A	2.37:g.125521571G>A	ENSP00000399013:p.Val793Ile		125238041	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660591	0.67586	.	.	ENSG00000155052	ENST00000431078	T	0.49139	0.79	5.9	4.99	0.66335	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.142139	0.31601	N	0.007361	T	0.30510	0.0767	L	0.28556	0.865	0.36018	D	0.83852	P	0.43633	0.813	B	0.25405	0.06	T	0.45086	-0.9285	10	0.37606	T	0.19	.	16.2139	0.82191	0.0:0.1324:0.8676:0.0	.	793	Q8WYK1	CNTP5_HUMAN	I	793	ENSP00000399013:V793I	ENSP00000399013:V793I	V	+	1	0	CNTNAP5	125238041	1.000000	0.71417	0.976000	0.42696	0.983000	0.72400	7.857000	0.86963	2.804000	0.96469	0.655000	0.94253	GTC		0.428	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
NEB	4703	hgsc.bcm.edu	37	2	152582047	152582047	+	Missense_Mutation	SNP	T	T	C	rs544069233		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:152582047T>C	ENST00000172853.10	-	6	469	c.322A>G	c.(322-324)Aca>Gca	p.T108A	NEB_ENST00000427231.2_Missense_Mutation_p.T108A|NEB_ENST00000397345.3_Missense_Mutation_p.T108A|NEB_ENST00000604864.1_Missense_Mutation_p.T108A|NEB_ENST00000603639.1_Missense_Mutation_p.T108A|NEB_ENST00000409198.1_Missense_Mutation_p.T108A			P20929	NEBU_HUMAN	nebulin	108					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)			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)		TGTCCTTTTGTTTTCTCAAAC	0.393													T|||	1	0.000199681	0.0	0.0	5008	,	,		17330	0.0		0.0	False		,,,				2504	0.001																0			2											205.0	196.0	199.0					2																	152582047		1881	4106	5987	152290293	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.322A>G	2.37:g.152582047T>C	ENSP00000172853:p.Thr108Ala		152290293	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	T	3.636	-0.074596	0.07184	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	6.17	0.693	0.18056	.	0.505751	0.21446	N	0.074418	T	0.11793	0.0287	N	0.00890	-1.11	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.16837	-1.0389	10	0.06757	T	0.87	.	3.4966	0.07657	0.1088:0.5147:0.1063:0.2701	.	108	P20929	NEBU_HUMAN	A	108	ENSP00000386259:T108A;ENSP00000380505:T108A;ENSP00000416578:T108A;ENSP00000172853:T108A	ENSP00000172853:T108A	T	-	1	0	NEB	152290293	0.996000	0.38824	0.995000	0.50966	0.978000	0.69477	0.440000	0.21592	0.166000	0.19597	-0.242000	0.12053	ACA		0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543	
GALNT5	11227	hgsc.bcm.edu	37	2	158156137	158156137	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:158156137T>C	ENST00000259056.4	+	6	2560	c.2075T>C	c.(2074-2076)cTt>cCt	p.L692P	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						GACCCTGGCCTTGATGTTTGG	0.373																																																	0			2											90.0	86.0	87.0					2																	158156137		2203	4300	6503	157864383	SO:0001583	missense	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.2075T>C	2.37:g.158156137T>C	ENSP00000259056:p.Leu692Pro		157864383	A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	ENST00000259056.4	37	CCDS2203.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.801379	0.90538	.	.	ENSG00000136542	ENST00000259056	T	0.74209	-0.82	5.85	5.85	0.93711	.	0.065901	0.64402	D	0.000008	D	0.88994	0.6589	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.91351	0.5104	10	0.87932	D	0	.	15.9098	0.79463	0.0:0.0:0.0:1.0	.	692	Q7Z7M9	GALT5_HUMAN	P	692	ENSP00000259056:L692P	ENSP00000259056:L692P	L	+	2	0	GALNT5	157864383	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.237000	0.73441	0.459000	0.35465	CTT		0.373	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
SPEG	10290	hgsc.bcm.edu	37	2	220347992	220347992	+	Missense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:220347992C>T	ENST00000312358.7	+	30	5939	c.5807C>T	c.(5806-5808)cCc>cTc	p.P1936L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1936					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCTCAGTGCCCCGCCCACTG	0.662																																																	0			2											10.0	12.0	12.0					2																	220347992		1858	4078	5936	220056236	SO:0001583	missense	10290			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.5807C>T	2.37:g.220347992C>T	ENSP00000311684:p.Pro1936Leu		220056236	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	ENST00000312358.7	37	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264238	0.39995	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.66099	-0.19	4.75	3.84	0.44239	.	0.000000	0.38663	N	0.001602	T	0.57989	0.2091	L	0.34521	1.04	0.80722	D	1	P	0.48503	0.911	P	0.46940	0.532	T	0.64019	-0.6505	10	0.87932	D	0	.	14.7333	0.69399	0.0:0.8543:0.1457:0.0	.	1936	Q15772	SPEG_HUMAN	L	1936	ENSP00000311684:P1936L	ENSP00000265327:P1936L	P	+	2	0	SPEG	220056236	1.000000	0.71417	0.759000	0.31340	0.759000	0.43091	5.829000	0.69316	1.173000	0.42796	0.455000	0.32223	CCC		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876	
PAX3	5077	hgsc.bcm.edu	37	2	223163317	223163317	+	Silent	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:223163317G>A	ENST00000350526.4	-	1	154	c.18C>T	c.(16-18)ggC>ggT	p.G6G	PAX3_ENST00000392070.2_Silent_p.G6G|PAX3_ENST00000409828.3_Silent_p.G6G|PAX3_ENST00000392069.2_Silent_p.G6G|PAX3_ENST00000336840.6_Silent_p.G6G|PAX3_ENST00000258387.5_Silent_p.G6G|CCDC140_ENST00000295226.1_Intron|PAX3_ENST00000409551.3_Silent_p.G6G|PAX3_ENST00000344493.4_Silent_p.G6G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	6					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGCACAGCGCCGGCCAGCG	0.677			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	0			2											8.0	10.0	9.0					2																	223163317		2190	4282	6472	222871561	SO:0001819	synonymous_variant	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.18C>T	2.37:g.223163317G>A			222871561	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Silent	SNP	ENST00000350526.4	37	CCDS42826.1																																																																																				0.677	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
COL4A3	1285	hgsc.bcm.edu	37	2	228102706	228102706	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr2:228102706G>A	ENST00000396578.3	+	2	272	c.110G>A	c.(109-111)gGc>gAc	p.G37D	AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	37	7S domain.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAAGACAAAGGCCAGTGCTTC	0.433																																																	0			2											191.0	184.0	186.0					2																	228102706		1844	4085	5929	227810950	SO:0001583	missense	1285				CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.110G>A	2.37:g.228102706G>A	ENSP00000379823:p.Gly37Asp		227810950	Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233567	0.79688	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.91068	-2.78	4.95	4.95	0.65309	.	0.207971	0.34178	N	0.004197	D	0.89269	0.6667	N	0.08118	0	0.38580	D	0.950155	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	0.90781	0.4679	10	0.44086	T	0.13	.	14.0362	0.64646	0.0:0.0:1.0:0.0	.	37;37;37;37	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	D	37	ENSP00000379823:G37D	ENSP00000323334:G37D	G	+	2	0	COL4A3	227810950	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	4.714000	0.61902	2.454000	0.82982	0.591000	0.81541	GGC		0.433	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2	NM_000091	
NCBP1	4686	hgsc.bcm.edu	37	9	100413599	100413599	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr9:100413599C>T	ENST00000375147.3	+	10	1259	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	335					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TAGTGCTGCACAGTTAGTGAG	0.353																																					Ovarian(36;879 898 2893 44212 50307)												0			9											131.0	122.0	125.0					9																	100413599		2203	4300	6503	99453420	SO:0001587	stop_gained	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1003C>T	9.37:g.100413599C>T	ENSP00000364289:p.Gln335*		99453420	B2R718|Q59G76|Q5T1V0|Q5T7X2	Nonsense_Mutation	SNP	ENST00000375147.3	37	CCDS6728.1	.	.	.	.	.	.	.	.	.	.	C	38	7.035503	0.98017	.	.	ENSG00000136937	ENST00000375147	.	.	.	5.59	4.68	0.58851	.	0.056109	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-9.8878	15.6735	0.77297	0.1384:0.8616:0.0:0.0	.	.	.	.	X	335	.	ENSP00000364289:Q335X	Q	+	1	0	NCBP1	99453420	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	7.110000	0.77069	1.474000	0.48178	0.585000	0.79938	CAG		0.353	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053337.1	NM_002486	
C9orf156	51531	hgsc.bcm.edu	37	9	100672273	100672273	+	Silent	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr9:100672273G>A	ENST00000375119.3	-	4	1111	c.1035C>T	c.(1033-1035)gcC>gcT	p.A345A	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	345					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				ggtcCATCTCGGCATGAGGAG	0.507																																																	0			9											42.0	40.0	41.0					9																	100672273		2203	4300	6503	99712094	SO:0001819	synonymous_variant	51531			AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.1035C>T	9.37:g.100672273G>A			99712094	Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Silent	SNP	ENST00000375119.3	37	CCDS6730.1																																																																																				0.507	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481	
GARNL3	84253	hgsc.bcm.edu	37	9	130149570	130149570	+	Silent	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr9:130149570G>A	ENST00000373387.4	+	25	2839	c.2487G>A	c.(2485-2487)ccG>ccA	p.P829P	GARNL3_ENST00000435213.2_Silent_p.P807P|GARNL3_ENST00000314904.5_Intron|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	829					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AGACACCCCCGGGCCGAGATA	0.463																																																	0			9											59.0	62.0	61.0					9																	130149570		2203	4300	6503	129189391	SO:0001819	synonymous_variant	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.2487G>A	9.37:g.130149570G>A			129189391	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Silent	SNP	ENST00000373387.4	37	CCDS6869.2																																																																																				0.463	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
PSPC1	55269	hgsc.bcm.edu	37	13	20325440	20325440	+	Missense_Mutation	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr13:20325440T>C	ENST00000338910.4	-	4	1097	c.938A>G	c.(937-939)cAt>cGt	p.H313R		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	313	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTGGTGTTCATGCCTAGCTGC	0.398																																																	0			13											287.0	264.0	272.0					13																	20325440		1928	4127	6055	19223440	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.938A>G	13.37:g.20325440T>C	ENSP00000343966:p.His313Arg		19223440	Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313494	0.60414	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.16073	2.37	4.83	4.83	0.62350	.	0.112999	0.64402	D	0.000011	T	0.21347	0.0514	M	0.66297	2.02	0.53688	D	0.999977	P	0.45672	0.864	B	0.39299	0.296	T	0.04307	-1.0961	10	0.51188	T	0.08	-18.8568	14.705	0.69183	0.0:0.0:0.0:1.0	.	313	Q8WXF1	PSPC1_HUMAN	R	313;253	ENSP00000343966:H313R	ENSP00000343966:H313R	H	-	2	0	PSPC1	19223440	1.000000	0.71417	0.998000	0.56505	0.888000	0.51559	7.988000	0.88194	1.943000	0.56356	0.454000	0.30748	CAT		0.398	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2		
MTMR6	9107	hgsc.bcm.edu	37	13	25826045	25826045	+	Missense_Mutation	SNP	G	G	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr13:25826045G>T	ENST00000381801.5	-	12	2185	c.1424C>A	c.(1423-1425)tCc>tAc	p.S475Y	MTMR6_ENST00000540661.1_Missense_Mutation_p.S475Y	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	475	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|potassium ion transmembrane transport (GO:0071805)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	calcium-activated potassium channel activity (GO:0015269)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)	p.S475F(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		GTGAGATTCGGAACTGTAGAG	0.328																																																	1	Substitution - Missense(1)	ovary(1)	13											116.0	132.0	127.0					13																	25826045		2203	4299	6502	24724045	SO:0001583	missense	9107			AF072928	CCDS9313.1	13q12	2011-06-09			ENSG00000139505	ENSG00000139505		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7453	protein-coding gene	gene with protein product		603561				9736772	Standard	NM_004685		Approved		uc001uqf.4	Q9Y217	OTTHUMG00000016606	ENST00000381801.5:c.1424C>A	13.37:g.25826045G>T	ENSP00000371221:p.Ser475Tyr		24724045	B2RBB5|B3KSB4|Q5JRG6|Q86TB7|Q86YH4|Q96P80	Missense_Mutation	SNP	ENST00000381801.5	37	CCDS9313.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.498193	0.44455	.	.	ENSG00000139505	ENST00000540661;ENST00000541021;ENST00000381801;ENST00000319298	D;D	0.90444	-2.67;-2.67	5.51	5.51	0.81932	Myotubularin phosphatase domain (1);	0.315828	0.38959	N	0.001517	D	0.87249	0.6130	L	0.35644	1.08	0.50467	D	0.999877	B;B	0.18166	0.015;0.026	B;B	0.30251	0.053;0.113	D	0.83960	0.0321	10	0.59425	D	0.04	.	12.9901	0.58614	0.0:0.0:0.7174:0.2825	.	475;475	Q9Y217;Q9Y217-2	MTMR6_HUMAN;.	Y	475;475;475;43	ENSP00000443161:S475Y;ENSP00000371221:S475Y	ENSP00000317987:S43Y	S	-	2	0	MTMR6	24724045	0.883000	0.30277	0.447000	0.26932	0.876000	0.50452	3.735000	0.55044	2.578000	0.87016	0.585000	0.79938	TCC		0.328	MTMR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044225.1	NM_004685	
DZIP1	22873	hgsc.bcm.edu	37	13	96277049	96277049	+	Silent	SNP	T	T	C			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr13:96277049T>C	ENST00000376829.2	-	8	1796	c.945A>G	c.(943-945)ttA>ttG	p.L315L	DZIP1_ENST00000347108.3_Silent_p.L315L|DZIP1_ENST00000361396.2_Silent_p.L315L|DZIP1_ENST00000361156.3_Silent_p.L315L	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	315					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TCTTCGAAGTTAATTCTTTAA	0.333																																																	0			13											99.0	93.0	95.0					13																	96277049		2194	4300	6494	95075050	SO:0001819	synonymous_variant	22873			AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.945A>G	13.37:g.96277049T>C			95075050	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Silent	SNP	ENST00000376829.2	37	CCDS9478.1																																																																																				0.333	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045496.3	NM_014934	
PCDH15	65217	hgsc.bcm.edu	37	10	55945014	55945014	+	Missense_Mutation	SNP	C	C	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr10:55945014C>G	ENST00000320301.6	-	12	1714	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D	PCDH15_ENST00000361849.3_Missense_Mutation_p.E440D|PCDH15_ENST00000373955.1_Missense_Mutation_p.E440D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.E403D|PCDH15_ENST00000414778.1_Missense_Mutation_p.E445D|PCDH15_ENST00000395433.1_Missense_Mutation_p.E418D|PCDH15_ENST00000395445.1_Missense_Mutation_p.E447D|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.E447D|PCDH15_ENST00000395446.1_Missense_Mutation_p.E440D|PCDH15_ENST00000437009.1_Missense_Mutation_p.E440D|PCDH15_ENST00000373957.3_Missense_Mutation_p.E418D|PCDH15_ENST00000409834.1_Missense_Mutation_p.E51D|PCDH15_ENST00000395438.1_Missense_Mutation_p.E440D|PCDH15_ENST00000395430.1_Missense_Mutation_p.E440D	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	440	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAAGGTGAAGCTCTGGGTCTT	0.373										HNSCC(58;0.16)																																							0			10											126.0	120.0	122.0					10																	55945014		2203	4300	6503	55615020	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1320G>C	10.37:g.55945014C>G	ENSP00000322604:p.Glu440Asp		55615020	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325119	0.41197	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;1.45;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.29	2.38	0.29361	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.60287	0.2257	L	0.36672	1.1	0.24819	N	0.992599	D;P;P;B;P;P;D;P;P;P;P;P;P;P;P	0.56287	0.975;0.772;0.772;0.157;0.702;0.891;0.975;0.542;0.61;0.61;0.542;0.741;0.486;0.542;0.772	P;P;P;B;P;P;P;B;B;B;B;P;B;B;P	0.57911	0.829;0.484;0.602;0.105;0.545;0.602;0.829;0.388;0.277;0.191;0.388;0.489;0.098;0.388;0.602	T	0.50617	-0.8807	9	0.49607	T	0.09	.	10.595	0.45331	0.0:0.7692:0.0:0.2308	.	418;440;440;445;440;403;440;440;447;447;440;445;440;418;440	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	D	447;445;440;440;51;447;440;403;440;418;418;440;440;445;440;440	ENSP00000363076:E447D;ENSP00000410304:E445D;ENSP00000378826:E440D;ENSP00000386693:E51D;ENSP00000378832:E447D;ENSP00000378833:E440D;ENSP00000378820:E403D;ENSP00000354950:E440D;ENSP00000378821:E418D;ENSP00000363068:E418D;ENSP00000322604:E440D;ENSP00000378818:E440D;ENSP00000412628:E440D;ENSP00000363066:E440D	ENSP00000322604:E440D	E	-	3	2	PCDH15	55615020	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	0.741000	0.26202	0.727000	0.32360	0.591000	0.81541	GAG		0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
PTEN	5728	hgsc.bcm.edu	37	10	89624297	89624297	+	Missense_Mutation	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr10:89624297A>G	ENST00000371953.3	+	1	1428	c.71A>G	c.(70-72)gAc>gGc	p.D24G	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	24	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.?(13)|p.D24G(4)|p.D24fs*19(2)|p.D24fs*20(2)|p.D24_L25del(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)		TTCGACTTAGACTTGACCTGT	0.463		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"""	59	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(4)|Insertion - Frameshift(4)|Deletion - In frame(1)	prostate(14)|central_nervous_system(13)|skin(7)|lung(6)|endometrium(5)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											165.0	157.0	160.0					10																	89624297		2203	4300	6503	89614277	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.71A>G	10.37:g.89624297A>G	ENSP00000361021:p.Asp24Gly		89614277	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.686823	0.88639	.	.	ENSG00000171862	ENST00000371953	D	0.98849	-5.18	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.107942	0.64402	D	0.000010	D	0.98710	0.9567	H	0.97365	3.99	0.80722	D	1	P	0.36144	0.539	B	0.34991	0.193	D	0.99478	1.0947	9	.	.	.	-0.0364	14.1807	0.65572	1.0:0.0:0.0:0.0	.	24	P60484	PTEN_HUMAN	G	24	ENSP00000361021:D24G	.	D	+	2	0	PTEN	89614277	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.379000	0.90146	1.996000	0.58369	0.459000	0.35465	GAC		0.463	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89692999	89692999	+	Silent	SNP	A	A	G			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr10:89692999A>G	ENST00000371953.3	+	5	1840	c.483A>G	c.(481-483)agA>agG	p.R161R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	161	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.?(5)|p.Y27fs*1(2)|p.F56fs*2(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)		TAAGGACCAGAGACAAAAAGG	0.363		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(8)|Unknown(5)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10											50.0	52.0	51.0					10																	89692999		2203	4300	6503	89682979	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.483A>G	10.37:g.89692999A>G			89682979	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				0.363	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CYP2E1	1571	hgsc.bcm.edu	37	10	135352376	135352376	+	Missense_Mutation	SNP	G	G	A	rs187941410		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr10:135352376G>A	ENST00000463117.2	+	11	1662	c.1390G>A	c.(1390-1392)Gtt>Att	p.V464I	CYP2E1_ENST00000252945.3_Missense_Mutation_p.V464I|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	464					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAAGCCTCTCGTTGACCCAAA	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				G|||	1	0.000199681	0.0	0.0	5008	,	,		17902	0.0		0.001	False		,,,				2504	0.0																0			10						G	ILE/VAL	0,4406		0,0,2203	219.0	178.0	192.0		1390	5.1	0.2	10		192	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYP2E1	NM_000773.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	464/494	135352376	1,13005	2203	4300	6503	135202366	SO:0001583	missense	1571	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.1390G>A	10.37:g.135352376G>A	ENSP00000440689:p.Val464Ile		135202366	Q5VZD5|Q6NWT9|Q9UK47	Missense_Mutation	SNP	ENST00000463117.2	37	CCDS7686.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	8.490	0.861845	0.17178	0.0	1.16E-4	ENSG00000130649	ENST00000463117;ENST00000252945	T;T	0.69561	-0.41;-0.41	5.1	5.1	0.69264	.	0.686916	0.14634	N	0.307614	T	0.59459	0.2195	L	0.49513	1.565	0.09310	N	1	B	0.20368	0.044	B	0.14578	0.011	T	0.50608	-0.8808	10	0.49607	T	0.09	.	9.7342	0.40377	0.0919:0.0:0.9081:0.0	.	464	P05181	CP2E1_HUMAN	I	464	ENSP00000440689:V464I;ENSP00000252945:V464I	ENSP00000252945:V464I	V	+	1	0	CYP2E1	135202366	0.002000	0.14202	0.163000	0.22734	0.209000	0.24338	0.750000	0.26334	2.831000	0.97527	0.561000	0.74099	GTT		0.473	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051161.2	NM_000773	
TRIO	7204	hgsc.bcm.edu	37	5	14419928	14419928	+	Silent	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr5:14419928C>T	ENST00000344204.4	+	34	5025	c.5001C>T	c.(4999-5001)ttC>ttT	p.F1667F	TRIO_ENST00000537187.1_Silent_p.F1667F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1667	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCATGACTTCACCGCTTGCA	0.602																																																	0			5											59.0	52.0	54.0					5																	14419928		2203	4300	6503	14472928	SO:0001819	synonymous_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.5001C>T	5.37:g.14419928C>T			14472928	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
UGT3A2	167127	hgsc.bcm.edu	37	5	36035969	36035969	+	Missense_Mutation	SNP	G	G	A			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr5:36035969G>A	ENST00000282507.3	-	7	1504	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	UGT3A2_ENST00000513300.1_Missense_Mutation_p.A434V|UGT3A2_ENST00000545528.1_Missense_Mutation_p.A166V	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	468					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGGTGCGTCGCGCCCCCTGT	0.632																																																	0			5											50.0	45.0	47.0					5																	36035969		2203	4300	6503	36071726	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1403C>T	5.37:g.36035969G>A	ENSP00000282507:p.Ala468Val		36071726	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.328942	0.24167	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.70749	-0.51;-0.51;-0.26	2.74	1.83	0.25207	.	0.364632	0.19685	U	0.108411	D	0.83613	0.5292	M	0.90759	3.145	0.09310	N	1	D;D	0.76494	0.978;0.999	P;D	0.64410	0.74;0.925	T	0.74677	-0.3585	10	0.87932	D	0	.	10.5339	0.44992	0.0:0.3944:0.6056:0.0	.	434;468	E9PFK7;Q3SY77	.;UD3A2_HUMAN	V	468;434;166	ENSP00000282507:A468V;ENSP00000427404:A434V;ENSP00000445367:A166V	ENSP00000282507:A468V	A	-	2	0	UGT3A2	36071726	0.003000	0.15002	0.003000	0.11579	0.001000	0.01503	0.774000	0.26675	0.670000	0.31165	0.563000	0.77884	GCG		0.632	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914	
NNT	23530	hgsc.bcm.edu	37	5	43655960	43655960	+	Missense_Mutation	SNP	G	G	A	rs139987446		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr5:43655960G>A	ENST00000264663.5	+	15	2299	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	NNT_ENST00000344920.4_Missense_Mutation_p.R693H|NNT_ENST00000512996.2_Missense_Mutation_p.R562H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	693					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					ATTGCCAAACGCATCCAGATT	0.348																																																	0			5						G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	106.0	109.0		2078,2078	5.7	1.0	5	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	NNT	NM_012343.3,NM_182977.2	29,29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	693/1087,693/1087	43655960	2,13004	2203	4300	6503	43691717	SO:0001583	missense	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2078G>A	5.37:g.43655960G>A	ENSP00000264663:p.Arg693His		43691717	Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.440831	0.83993	2.27E-4	1.16E-4	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.92397	-3.03;-3.03;-3.03	5.7	5.7	0.88788	.	0.088921	0.64402	D	0.000001	D	0.96753	0.8940	M	0.88310	2.945	0.58432	D	0.999995	D	0.76494	0.999	D	0.69654	0.965	D	0.97008	0.9734	10	0.87932	D	0	-11.1376	19.8361	0.96658	0.0:0.0:1.0:0.0	.	693	Q13423	NNTM_HUMAN	H	208;693;693;562	ENSP00000264663:R693H;ENSP00000343873:R693H;ENSP00000426343:R562H	ENSP00000264663:R693H	R	+	2	0	NNT	43691717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.428000	0.52792	2.692000	0.91855	0.655000	0.94253	CGC		0.348	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977	
C5orf30	90355	hgsc.bcm.edu	37	5	102611999	102611999	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr5:102611999C>T	ENST00000319933.2	+	3	687	c.379C>T	c.(379-381)Cga>Tga	p.R127*	C5orf30_ENST00000515669.1_Nonsense_Mutation_p.R127*|C5orf30_ENST00000510890.1_Nonsense_Mutation_p.R127*	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	127	Poly-Arg.				cilium morphogenesis (GO:0060271)|protein transport (GO:0015031)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		TGGCAGGAGGCGAAGGCGGAT	0.493																																																	0			5											54.0	57.0	56.0					5																	102611999		2203	4300	6503	102639898	SO:0001587	stop_gained	90355				CCDS4095.1	5q21.1	2012-02-23			ENSG00000181751	ENSG00000181751			25052	protein-coding gene	gene with protein product						22085962	Standard	NM_033211		Approved	FLJ25291	uc003kog.1	Q96GV9	OTTHUMG00000128738	ENST00000319933.2:c.379C>T	5.37:g.102611999C>T	ENSP00000326110:p.Arg127*		102639898		Nonsense_Mutation	SNP	ENST00000319933.2	37	CCDS4095.1	.	.	.	.	.	.	.	.	.	.	C	37	6.171622	0.97348	.	.	ENSG00000181751	ENST00000319933;ENST00000515669;ENST00000510890	.	.	.	6.17	5.3	0.74995	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.2029	14.9259	0.70878	0.3094:0.6906:0.0:0.0	.	.	.	.	X	127	.	ENSP00000326110:R127X	R	+	1	2	C5orf30	102639898	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.706000	0.47135	1.618000	0.50286	0.655000	0.94253	CGA		0.493	C5orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250649.1	NM_033211	
TCERG1	10915	hgsc.bcm.edu	37	5	145838674	145838674	+	Silent	SNP	A	A	G	rs111879925		TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr5:145838674A>G	ENST00000296702.5	+	4	704	c.666A>G	c.(664-666)caA>caG	p.Q222Q	TCERG1_ENST00000394421.2_Silent_p.Q222Q	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	222	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			cccaggcccaagcccaagccc	0.716																																																	0			5											14.0	18.0	17.0					5																	145838674		2201	4297	6498	145818867	SO:0001819	synonymous_variant	10915			AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.666A>G	5.37:g.145838674A>G			145818867	Q2NKN2|Q59EA1	Silent	SNP	ENST00000296702.5	37	CCDS4282.1																																																																																				0.716	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	NM_001040006	
FMN2	56776	hgsc.bcm.edu	37	1	240371635	240371667	+	In_Frame_Del	DEL	CCTCCGCCCCCTCTACCTGGAGTGGGAATACCT	CCTCCGCCCCCTCTACCTGGAGTGGGAATACCT	-	rs267598447|rs183336748|rs142072223|rs528484073|rs549087270|rs76758921	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	CCTCCGCCCCCTCTACCTGGAGTGGGAATACCT	CCTCCGCCCCCTCTACCTGGAGTGGGAATACCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr1:240371635_240371667delCCTCCGCCCCCTCTACCTGGAGTGGGAATACCT	ENST00000319653.9	+	5	3753_3785	c.3523_3555delCCTCCGCCCCCTCTACCTGGAGTGGGAATACCT	c.(3523-3555)cctccgccccctctacctggagtgggaatacctdel	p.PPPPLPGVGIP1186del		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1186	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.P1319P(1)|p.P1319L(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)			GGGCATACCCCCTCCGCCCCCTCTACCTGGAGTGGGAATACCTCCTCCGCCCC	0.674																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|prostate(1)	1																																								238438290	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.3523_3555delCCTCCGCCCCCTCTACCTGGAGTGGGAATACCT	1.37:g.240371635_240371667delCCTCCGCCCCCTCTACCTGGAGTGGGAATACCT	ENSP00000318884:p.Pro1186_Pro1196del		238438258	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	In_Frame_Del	DEL	ENST00000319653.9	37	CCDS31069.2																																																																																				0.674	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
MUC4	4585	hgsc.bcm.edu	37	3	195505908	195505955	+	In_Frame_Del	DEL	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	-	rs573106893|rs374377441|rs201002111|rs558861219|rs574445078|rs577069816|rs201499581|rs55789594|rs543820459|rs200786826|rs377017763|rs199963450	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	GCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENST00000463781.3	-	2	12955_13002	c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	c.(12496-12543)gcttcctcagtgtccacaggtcacggcacccctcttcctgtcaccagcdel	p.ASSVSTGHGTPLPVTS4166del	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_In_Frame_Del_p.ASSVSTGHGTPLPVTS4166del	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A4166_S4181delASSVSTGHGTPLPVTS(2)|p.V4169V(1)|p.A4166T(1)|p.V4169A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGTGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGCGTCGGTGACA	0.585																																																	5	Substitution - Missense(2)|Deletion - In frame(2)|Substitution - coding silent(1)	stomach(4)|upper_aerodigestive_tract(1)	3							,,	336,2928		86,164,1382					,,		0.0			13	856,5568		218,420,2574	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	304,584,3956	A1A1,A1R,RR		13.325,10.2941,12.3039	,,	,,		1192,8496				196990734	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12496_12543delGCTTCCTCAGTGTCCACAGGTCACGGCACCCCTCTTCCTGTCACCAGC	3.37:g.195505908_195505955delGCTGGTGACAGGAAGAGGGGTGCCGTGACCTGTGGACACTGAGGAAGC	ENSP00000417498:p.Ala4166_Ser4181del		196990687	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.585	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508450	195508450	+	Frame_Shift_Del	DEL	G	G	-	rs568124972	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:195508450delG	ENST00000463781.3	-	2	10460	c.10001delC	c.(10000-10002)cctfs	p.P3334fs	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Del_p.P3334fs	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGCTGAGGAAGGGCTGGTGAC	0.592																																																	1	Deletion - In frame(1)	stomach(1)	3							,,	22,3408		2,18,1695	29.0	22.0	24.0		,,	-0.9	0.0	3	dbSNP_130	24	130,7010		12,106,3452	no	intron,frameshift,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	14,124,5147	A1A1,A1R,RR		1.8207,0.6414,1.438	,,	,,	195508450	152,10418	689	1574	2263	196993229	SO:0001589	frameshift_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10001delC	3.37:g.195508450delG	ENSP00000417498:p.Pro3334fs		196993229	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508454	195508455	+	Frame_Shift_Ins	INS	-	-	C	rs201319965	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr3:195508454_195508455insC	ENST00000463781.3	-	2	10455_10456	c.9996_9997insG	c.(9994-9999)accagcfs	p.S3333fs	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Frame_Shift_Ins_p.S3333fs	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGGGCTGGTGACATGAA	0.594																																																	1	Deletion - In frame(1)	stomach(1)	3																																								196993234	SO:0001589	frameshift_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9996_9997insG	3.37:g.195508454_195508455insC	ENSP00000417498:p.Ser3333fs		196993233	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Frame_Shift_Ins	INS	ENST00000463781.3	37	CCDS54700.1																																																																																				0.594	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
BTNL2	56244	hgsc.bcm.edu	37	6	32370970	32370970	+	Frame_Shift_Del	DEL	G	G	-	rs370253771|rs60740710	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr6:32370970delG	ENST00000374993.1	-	3	450	c.451delC	c.(451-453)cacfs	p.H151fs	BTNL2_ENST00000454136.3_Frame_Shift_Del_p.H151fs|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	151	Ig-like V-type 2.					integral component of membrane (GO:0016021)		p.H151fs*96(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCTCCATGTGGATGCTAGGG	0.602													GG|GG|G|deletion	672	0.134185	0.1369	0.1369	5008	,	,		18467	0.1984		0.0974	False		,,,				2504	0.1002																1	Deletion - Frameshift(1)	kidney(1)	6								408,3086		47,314,1386	22.0	22.0	22.0			3.5	0.9	6	dbSNP_129	24	520,6118		63,394,2862	yes	frameshift	BTNL2	NM_019602.1		110,708,4248	A1A1,A1R,RR		7.8337,11.6772,9.1591			32370970	928,9204	1502	2696	4198	32478948	SO:0001589	frameshift_variant	56244			AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.451delC	6.37:g.32370970delG	ENSP00000364132:p.His151fs		32478948	A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Frame_Shift_Del	DEL	ENST00000374993.1	37																																																																																					0.602	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602	
ZAN	7455	hgsc.bcm.edu	37	7	100377138	100377139	+	RNA	INS	-	-	GGGC	rs377520746|rs141127397	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr7:100377138_100377139insGGGC	ENST00000348028.3	+	0	6552_6553				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGGAAACTGCAGGGCGGCCGAC	0.634														282	0.0563099	0.0038	0.0245	5008	,	,		14335	0.1002		0.006	False		,,,				2504	0.1564																0			7							,	22,3824		2,18,1903					,	-2.9	0.0		dbSNP_134	31	35,7909		0,35,3937	no	frameshift,frameshift	ZAN	NM_173059.1,NM_003386.1	,	2,53,5840	A1A1,A1R,RR		0.4406,0.572,0.4835	,	,		57,11733				100215075			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100377139_100377142dupGGGC			100215074	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Ins	INS	ENST00000348028.3	37																																																																																					0.634	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
GOT1L1	137362	hgsc.bcm.edu	37	8	37791833	37791834	+	Frame_Shift_Ins	INS	-	-	T	rs370114090	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr8:37791833_37791834insT	ENST00000307599.4	-	9	1342_1343	c.1243_1244insA	c.(1243-1245)acafs	p.T415fs		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	415					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)	cytoplasm (GO:0005737)	pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			TCCAATCAGTGTTTTTTTTTCC	0.371													?|TTTTTTTTT|TTTTTTTTTT|unsure	7	0.00139776	0.0	0.0	5008	,	,		21654	0.0069		0.0	False		,,,				2504	0.0																0			8																																								37910992	SO:0001589	frameshift_variant	137362			BC029504	CCDS47839.1	8p12	2005-09-22			ENSG00000169154	ENSG00000169154			28487	protein-coding gene	gene with protein product						12477932	Standard	NM_152413		Approved	MGC33309	uc011lbj.1	Q8NHS2	OTTHUMG00000164027	ENST00000307599.4:c.1244dupA	8.37:g.37791842_37791842dupT	ENSP00000303077:p.Thr415fs		37910991	A8MWL4	Frame_Shift_Ins	INS	ENST00000307599.4	37	CCDS47839.1																																																																																				0.371	GOT1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376823.1	NM_152413	
KIAA2026	158358	hgsc.bcm.edu	37	9	5921603	5921604	+	Frame_Shift_Ins	INS	-	-	TACA			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr9:5921603_5921604insTACA	ENST00000399933.3	-	8	4391_4392	c.4392_4393insTGTA	c.(4390-4395)gtaatcfs	p.I1465fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.I1435fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1465										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		GTCCCACTGATTACATCTCCAT	0.391																																																	0			9																																								5911604	SO:0001589	frameshift_variant	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.4389_4392dupTGTA	9.37:g.5921604_5921607dupTACA	ENSP00000382815:p.Ile1465fs		5911603	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Ins	INS	ENST00000399933.3	37																																																																																					0.391	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969	
KRTAP5-2	440021	hgsc.bcm.edu	37	11	1619173	1619202	+	In_Frame_Del	DEL	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	-	rs61869706|rs199811378|rs36134435|rs61869704|rs59506446	byFrequency	TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	CCCCCACAGGAGCCACAGCCCCCCTTGGAG	CCCCCACAGGAGCCACAGCCCCCCTTGGAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr11:1619173_1619202delCCCCCACAGGAGCCACAGCCCCCCTTGGAG	ENST00000412090.1	-	1	322_351	c.279_308delCTCCAAGGGGGGCTGTGGCTCCTGTGGGGG	c.(277-309)ggctccaaggggggctgtggctcctgtgggggt>ggt	p.93_103GSKGGCGSCGG>G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_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		1575749	A9JTZ1	In_Frame_Del	DEL	ENST00000412090.1	37	CCDS31331.1																																																																																				0.657	KRTAP5-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384775.1	NM_001004325	
LRFN5	145581	hgsc.bcm.edu	37	14	42361064	42361064	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DT-5265-01A-21D-1826-10	TCGA-DT-5265-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	803b9cc5-41c6-4c0c-9211-dae9fb2db332	ea8c74bd-3603-4bcf-9631-b5982ed8258c	g.chr14:42361064delA	ENST00000298119.4	+	4	3186	c.1997delA	c.(1996-1998)caafs	p.Q666fs	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	666						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTGAATCCCAAAACACTAAC	0.468										HNSCC(30;0.082)																																							0			14											101.0	84.0	90.0					14																	42361064		2203	4300	6503	41430814	SO:0001589	frameshift_variant	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1997delA	14.37:g.42361064delA	ENSP00000298119:p.Gln666fs		41430814	B3KU78|Q86XL2	Frame_Shift_Del	DEL	ENST00000298119.4	37	CCDS9678.1																																																																																				0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
