#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
SDK1	221935	hgsc.bcm.edu	37	7	4089010	4089010	+	Missense_Mutation	SNP	C	C	T	rs371559284		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:4089010C>T	ENST00000404826.2	+	18	2772	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	SDK1_ENST00000389531.3_Missense_Mutation_p.T878M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	878	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACGTGCAGACGGAAGCCGTG	0.577																																																	0			7						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	81.0	71.0	74.0		2633	3.2	0.2	7		74	0,8600		0,0,4300	no	missense	SDK1	NM_152744.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	878/2214	4089010	1,13005	2203	4300	6503	4055536	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2633C>T	7.37:g.4089010C>T	ENSP00000385899:p.Thr878Met		4055536	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220720	0.22457	2.27E-4	0.0	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.56611	0.45;0.45	5.13	3.22	0.36961	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.062720	0.07344	N	0.881199	T	0.51075	0.1653	L	0.60455	1.87	0.09310	N	1	B;B	0.24651	0.108;0.102	B;B	0.22386	0.039;0.022	T	0.46020	-0.9221	10	0.66056	D	0.02	.	9.6155	0.39690	0.0:0.7415:0.0:0.2585	.	878;878	F8W6X9;Q7Z5N4	.;SDK1_HUMAN	M	878	ENSP00000385899:T878M;ENSP00000374182:T878M	ENSP00000374182:T878M	T	+	2	0	SDK1	4055536	0.094000	0.21725	0.226000	0.23910	0.947000	0.59692	0.928000	0.28831	0.483000	0.27608	0.557000	0.71058	ACG		0.577	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
FKBP14	55033	hgsc.bcm.edu	37	7	30062407	30062407	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:30062407T>A	ENST00000222803.5	-	2	398	c.223A>T	c.(223-225)Att>Ttt	p.I75F	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	75	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|large_intestine(2)|lung(2)	5						GTAAACCAAATGGGCTGACCA	0.413																																																	0			7											76.0	74.0	74.0					7																	30062407		2203	4300	6503	30028932	SO:0001583	missense	55033			AK000738	CCDS5423.1	7p15	2014-09-17	2002-08-29		ENSG00000106080	ENSG00000106080		"""EF-hand domain containing"""	18625	protein-coding gene	gene with protein product		614505	"""FK506 binding protein 14 (22 kDa)"""			12036304	Standard	NM_017946		Approved	FLJ20731, FKBP22	uc003tal.2	Q9NWM8	OTTHUMG00000023442	ENST00000222803.5:c.223A>T	7.37:g.30062407T>A	ENSP00000222803:p.Ile75Phe		30028932		Missense_Mutation	SNP	ENST00000222803.5	37	CCDS5423.1	.	.	.	.	.	.	.	.	.	.	T	5.073	0.199139	0.09652	.	.	ENSG00000106080	ENST00000222803	D	0.84730	-1.89	5.81	2.14	0.27477	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.277481	0.41938	D	0.000787	T	0.55970	0.1954	N	0.00788	-1.185	0.40731	D	0.982749	B	0.21381	0.055	B	0.29598	0.104	T	0.54132	-0.8339	10	0.02654	T	1	-19.9282	8.1842	0.31328	0.0:0.3141:0.0:0.6859	.	75	Q9NWM8	FKB14_HUMAN	F	75	ENSP00000222803:I75F	ENSP00000222803:I75F	I	-	1	0	FKBP14	30028932	0.999000	0.42202	0.998000	0.56505	0.960000	0.62799	2.959000	0.49153	0.127000	0.18452	0.379000	0.24179	ATT		0.413	FKBP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214229.1	NM_017946	
VPS41	27072	hgsc.bcm.edu	37	7	38791872	38791872	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:38791872C>T	ENST00000310301.4	-	22	1884	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	VPS41_ENST00000395969.2_Silent_p.Q585Q	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	610					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)	p.Q610Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CATGGTAACGCTGCCCCTTAT	0.403																																																	1	Substitution - coding silent(1)	central_nervous_system(1)	7											176.0	167.0	170.0					7																	38791872		2203	4300	6503	38758397	SO:0001819	synonymous_variant	27072			U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.1830G>A	7.37:g.38791872C>T			38758397	E9PF36|Q86TP8|Q99851|Q99852	Silent	SNP	ENST00000310301.4	37	CCDS5457.1																																																																																				0.403	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		
HECW1	23072	hgsc.bcm.edu	37	7	43591930	43591930	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:43591930G>A	ENST00000395891.2	+	28	5110	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1468Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1502	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACTGAGTACCGGGGAGGTGAG	0.478																																																	0			7											86.0	91.0	89.0					7																	43591930		2028	4174	6202	43558455	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4505G>A	7.37:g.43591930G>A	ENSP00000379228:p.Arg1502Gln		43558455	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	37	6.008838	0.97195	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.56941	0.43;0.43	5.81	5.81	0.92471	HECT (4);	0.058126	0.64402	D	0.000001	T	0.69333	0.3099	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60012	0.743;0.867	T	0.70741	-0.4789	10	0.87932	D	0	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	1468;1502	B4DH42;Q76N89	.;HECW1_HUMAN	Q	1502;1468;1502	ENSP00000379228:R1502Q;ENSP00000407774:R1468Q	ENSP00000265522:R1502Q	R	+	2	0	HECW1	43558455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.745000	0.94114	0.655000	0.94253	CGG		0.478	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
EGFR	1956	hgsc.bcm.edu	37	7	55241637	55241637	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:55241637T>C	ENST00000275493.2	+	18	2262	c.2085T>C	c.(2083-2085)agT>agC	p.S695S	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.S642S|EGFR_ENST00000455089.1_Silent_p.S650S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	695	Important for dimerization, phosphorylation and activation.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTACACCCAGTGGAGAAGCTC	0.542		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0			7											102.0	105.0	104.0					7																	55241637		2203	4300	6503	55209131	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2085T>C	7.37:g.55241637T>C			55209131	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1																																																																																				0.542	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
AZGP1	563	hgsc.bcm.edu	37	7	99566005	99566005	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:99566005C>T	ENST00000292401.4	-	3	522	c.386G>A	c.(385-387)aGa>aAa	p.R129K	AZGP1_ENST00000483612.1_5'Flank|AZGP1_ENST00000411734.1_Missense_Mutation_p.R126K	NM_001185.3	NP_001176.1	P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	129					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell adhesion (GO:0007155)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein transmembrane transport (GO:0071806)|retina homeostasis (GO:0001895)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|MHC class I protein complex (GO:0042612)|nucleus (GO:0005634)	glycoprotein binding (GO:0001948)|peptide antigen binding (GO:0042605)|protein transmembrane transporter activity (GO:0008320)|ribonuclease activity (GO:0004540)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCCGCTGCTTCTGTTATTCTC	0.488																																																	0			7											213.0	229.0	224.0					7																	99566005		2203	4300	6503	99403941	SO:0001583	missense	563			BC005306	CCDS5680.1	7q22.1	2013-01-11	2006-11-07		ENSG00000160862	ENSG00000160862		"""Immunoglobulin superfamily / C1-set domain containing"""	910	protein-coding gene	gene with protein product		194460	"""alpha-2-glycoprotein 1, zinc"""			2049092	Standard	NM_001185		Approved	ZA2G, ZAG	uc003ush.3	P25311	OTTHUMG00000023066	ENST00000292401.4:c.386G>A	7.37:g.99566005C>T	ENSP00000292401:p.Arg129Lys		99403941	D6W5T8|O60386|Q5XKQ4|Q8N4N0	Missense_Mutation	SNP	ENST00000292401.4	37	CCDS5680.1	.	.	.	.	.	.	.	.	.	.	C	3.970	-0.008516	0.07727	.	.	ENSG00000160862	ENST00000292401;ENST00000411734	D;D	0.88818	-2.43;-2.43	2.76	-2.13	0.07144	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	1.268540	0.06134	N	0.671194	D	0.86372	0.5917	M	0.76328	2.33	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.71941	-0.4440	10	0.87932	D	0	.	4.6643	0.12657	0.0:0.4971:0.1858:0.3172	.	129	P25311	ZA2G_HUMAN	K	129;126	ENSP00000292401:R129K;ENSP00000396093:R126K	ENSP00000292401:R129K	R	-	2	0	AZGP1	99403941	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-1.147000	0.03188	-0.509000	0.06532	0.313000	0.20887	AGA		0.488	AZGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059387.4	NM_001185	
PIK3CG	5294	hgsc.bcm.edu	37	7	106508180	106508180	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:106508180G>A	ENST00000359195.3	+	2	484	c.174G>A	c.(172-174)ctG>ctA	p.L58L	PIK3CG_ENST00000496166.1_Silent_p.L58L|PIK3CG_ENST00000440650.2_Silent_p.L58L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	58	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L58L(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAACGGCGCTGCTGCACGTGG	0.682																																																	1	Substitution - coding silent(1)	lung(1)	7											26.0	31.0	30.0					7																	106508180		2200	4296	6496	106295416	SO:0001819	synonymous_variant	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.174G>A	7.37:g.106508180G>A			106295416	A4D0Q6|Q8IV23|Q9BZC8	Silent	SNP	ENST00000359195.3	37	CCDS5739.1																																																																																				0.682	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1		
COG5	10466	hgsc.bcm.edu	37	7	106844055	106844055	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:106844055A>C	ENST00000347053.3	-	21	2476	c.2426T>G	c.(2425-2427)gTt>gGt	p.V809G	COG5_ENST00000297135.3_Missense_Mutation_p.V830G	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	809					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACTGATTGAACATAAGCTTC	0.353																																																	0			7											124.0	114.0	118.0					7																	106844055		2203	4300	6503	106631291	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.2426T>G	7.37:g.106844055A>C	ENSP00000334703:p.Val809Gly		106631291	A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374937	0.82573	.	.	ENSG00000164597	ENST00000347053;ENST00000297135	T;T	0.19394	2.18;2.15	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.44912	0.1316	M	0.72479	2.2	0.80722	D	1	D;D	0.64830	0.988;0.994	P;P	0.62184	0.779;0.899	T	0.37314	-0.9711	10	0.62326	D	0.03	-23.1603	16.5582	0.84512	1.0:0.0:0.0:0.0	.	809;830	Q9UP83;Q9UP83-2	COG5_HUMAN;.	G	809;830	ENSP00000334703:V809G;ENSP00000297135:V830G	ENSP00000297135:V830G	V	-	2	0	COG5	106631291	1.000000	0.71417	0.989000	0.46669	0.641000	0.38312	8.160000	0.89653	2.308000	0.77769	0.533000	0.62120	GTT		0.353	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4		
TSPAN33	340348	hgsc.bcm.edu	37	7	128806676	128806676	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:128806676T>C	ENST00000289407.4	+	6	626	c.517T>C	c.(517-519)Tgc>Cgc	p.C173R	RP11-286H14.6_ENST00000498745.1_RNA|Y_RNA_ENST00000363759.1_RNA	NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	173					establishment of protein localization to plasma membrane (GO:0090002)|protein maturation (GO:0051604)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	enzyme binding (GO:0019899)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GTATTTCAACTGCTCAGAAGA	0.522																																																	0			7											277.0	248.0	258.0					7																	128806676		2203	4300	6503	128593912	SO:0001583	missense	340348				CCDS5810.1	7q32.3	2013-02-14			ENSG00000158457	ENSG00000158457		"""Tetraspanins"""	28743	protein-coding gene	gene with protein product		610120				16213355, 16242907	Standard	XM_006715960		Approved	MGC50844, Penumbra	uc003vop.2	Q86UF1	OTTHUMG00000158420	ENST00000289407.4:c.517T>C	7.37:g.128806676T>C	ENSP00000289407:p.Cys173Arg		128593912		Missense_Mutation	SNP	ENST00000289407.4	37	CCDS5810.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327444	0.81690	.	.	ENSG00000158457	ENST00000289407	T	0.78707	-1.2	5.79	5.79	0.91817	Tetraspanin, EC2 domain (1);	0.000000	0.85682	D	0.000000	D	0.90618	0.7058	H	0.94658	3.565	0.80722	D	1	D	0.61080	0.989	D	0.66716	0.946	D	0.92870	0.6313	10	0.72032	D	0.01	-26.7103	14.0849	0.64949	0.0:0.0:0.0:1.0	.	173	Q86UF1	TSN33_HUMAN	R	173	ENSP00000289407:C173R	ENSP00000289407:C173R	C	+	1	0	TSPAN33	128593912	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.560000	0.82277	2.208000	0.71279	0.533000	0.62120	TGC		0.522	TSPAN33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350983.1	NM_178562	
TBXAS1	6916	hgsc.bcm.edu	37	7	139717476	139717476	+	Missense_Mutation	SNP	C	C	T	rs200831963		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:139717476C>T	ENST00000336425.5	+	16	1759	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	TBXAS1_ENST00000425687.1_Missense_Mutation_p.T390M|TBXAS1_ENST00000411653.1_Intron|TBXAS1_ENST00000416849.2_Missense_Mutation_p.T504M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.T457M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.T503M|TBXAS1_ENST00000414508.2_Intron|TBXAS1_ENST00000263552.6_Missense_Mutation_p.T458M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.T458M			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	457					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	TGCAGGTTCACGGCTGAGGCC	0.687													C|||	0	0.0	0.0	0.0	5008	,	,		16209	0.0		0.0	False		,,,				2504	0.0																0			7											28.0	32.0	31.0					7																	139717476		2203	4297	6500	139363945	SO:0001583	missense	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.1370C>T	7.37:g.139717476C>T	ENSP00000338087:p.Thr457Met		139363945	B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000336425.5	37		1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	12.10	1.837088	0.32513	.	.	ENSG00000059377	ENST00000425687;ENST00000263552;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000448866;ENST00000458722	T;T;T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37;-0.37;-0.37	4.69	0.411	0.16392	.	0.253618	0.38217	N	0.001766	T	0.71854	0.3389	L	0.49640	1.575	0.51233	D	0.99991	D;D;D;P;P	0.89917	0.997;0.999;1.0;0.948;0.948	P;D;D;P;P	0.70016	0.863;0.961;0.967;0.509;0.509	T	0.70992	-0.4721	10	0.87932	D	0	.	8.7726	0.34742	0.2438:0.4914:0.2647:0.0	.	438;504;390;458;457	B4DVP1;E7EP08;E7ESB5;Q53F23;P24557	.;.;.;.;THAS_HUMAN	M	390;458;457;504;458;457;503	ENSP00000388736:T390M;ENSP00000263552:T458M;ENSP00000338087:T457M;ENSP00000389414:T504M;ENSP00000392361:T458M;ENSP00000402536:T457M;ENSP00000411274:T503M	ENSP00000263552:T458M	T	+	2	0	TBXAS1	139363945	0.795000	0.28851	0.420000	0.26596	0.066000	0.16364	1.479000	0.35453	0.373000	0.24621	0.561000	0.74099	ACG		0.687	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1		
MKRN1	23608	hgsc.bcm.edu	37	7	140154929	140154929	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:140154929T>C	ENST00000255977.2	-	7	1426	c.1202A>G	c.(1201-1203)cAg>cGg	p.Q401R	MKRN1_ENST00000474576.1_Missense_Mutation_p.Q337R|MKRN1_ENST00000437223.2_Missense_Mutation_p.Q135R	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	401					protein polyubiquitination (GO:0000209)		chromatin binding (GO:0003682)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TTTCTGTCTCTGTGGCTCCTC	0.478																																																	0			7											143.0	139.0	141.0					7																	140154929		2203	4300	6503	139801398	SO:0001583	missense	23608			AF192784	CCDS5860.1, CCDS47725.1	7q34	2013-01-09	2008-08-13		ENSG00000133606	ENSG00000133606		"""RING-type (C3HC4) zinc fingers"""	7112	protein-coding gene	gene with protein product		607754				10843807	Standard	NM_013446		Approved	RNF61	uc003vvt.2	Q9UHC7	OTTHUMG00000157412	ENST00000255977.2:c.1202A>G	7.37:g.140154929T>C	ENSP00000255977:p.Gln401Arg		139801398	A4D1T7|B3KXB4|Q256Y7|Q59G11|Q6GSF1|Q9H0G0|Q9UEZ7|Q9UHW2	Missense_Mutation	SNP	ENST00000255977.2	37	CCDS5860.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	3.997269|3.997269	0.74818|0.74818	.|.	.|.	ENSG00000133606|ENSG00000133606	ENST00000255977;ENST00000539898;ENST00000437223;ENST00000474576|ENST00000463142	T;T;T|.	0.41400|.	1.0;1.54;1.0|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.065987|.	0.64402|.	D|.	0.000009|.	T|T	0.64427|0.64427	0.2597|0.2597	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68621|.	0.959|.	T|T	0.67902|0.67902	-0.5550|-0.5550	10|6	0.22109|0.72032	T|D	0.4|0.01	.|.	14.865|14.865	0.70406|0.70406	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	401|.	Q9UHC7|.	MKRN1_HUMAN|.	R|G	401;337;135;337|54	ENSP00000255977:Q401R;ENSP00000439823:Q135R;ENSP00000417863:Q337R|.	ENSP00000255977:Q401R|ENSP00000417346:R54G	Q|R	-|-	2|1	0|2	MKRN1|MKRN1	139801398|139801398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.726000|5.726000	0.68515|0.68515	2.089000|2.089000	0.63090|0.63090	0.528000|0.528000	0.53228|0.53228	CAG|AGA		0.478	MKRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348752.1	NM_013446	
BRAF	673	hgsc.bcm.edu	37	7	140481402	140481402	+	Missense_Mutation	SNP	C	C	T	rs121913358|rs397516890|rs121913355		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:140481402C>T	ENST00000288602.6	-	11	1466	c.1406G>A	c.(1405-1407)gGa>gAa	p.G469E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in NHL; also in a lung adenocarcinoma sample; somatic mutation; elevated kinase activity; efficiently induces cell transformation). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:14612909, ECO:0000269|PubMed:17344846}.|G -> E (in CFC1 and colon cancer). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}.|G -> R (in NHL). {ECO:0000269|PubMed:14612909}.|G -> V (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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.G469A(19)|p.G469V(13)|p.G469S(5)|p.G469E(5)	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)	GTAGACTGTTCCAAATGATCC	0.373	G469A(NCIH1395_LUNG)|G469A(NCIH1755_LUNG)	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	42	Substitution - Missense(42)	lung(13)|large_intestine(9)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|biliary_tract(2)|NS(2)|upper_aerodigestive_tract(1)|cervix(1)|small_intestine(1)|oesophagus(1)	7	GRCh37	CM060876	BRAF	M	rs121913355						174.0	149.0	158.0					7																	140481402		2203	4300	6503	140127871	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.1406G>A	7.37:g.140481402C>T	ENSP00000288602:p.Gly469Glu		140127871	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.8|29.8	5.033024|5.033024	0.93575|0.93575	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.90324	.|-2.65	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97470|0.97470	0.9172|0.9172	H|H	0.98446|0.98446	4.235|4.235	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.91635	.|0.999	D|D	0.98855|0.98855	1.0760|1.0760	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|469	.|P15056	.|BRAF_HUMAN	K|E	77|469	.|ENSP00000288602:G469E	.|ENSP00000288602:G469E	E|G	-|-	1|2	0|0	BRAF|BRAF	140127871|140127871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAA|GGA		0.373	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
NOS3	4846	hgsc.bcm.edu	37	7	150698506	150698506	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr7:150698506G>A	ENST00000484524.1	+	10	1421	c.1421G>A	c.(1420-1422)cGc>cAc	p.R474H	NOS3_ENST00000467517.1_Missense_Mutation_p.R474H|NOS3_ENST00000297494.3_Missense_Mutation_p.R474H|NOS3_ENST00000461406.1_Missense_Mutation_p.R268H	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGGCCTTCCGCTACCAGGTG	0.597																																																	0			7											50.0	49.0	49.0					7																	150698506		2203	4300	6503	150329439	SO:0001583	missense	342977				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1421G>A	7.37:g.150698506G>A	ENSP00000420215:p.Arg474His		150329439	Q495E5	Missense_Mutation	SNP	ENST00000484524.1	37	CCDS55182.1	.	.	.	.	.	.	.	.	.	.	G	9.338	1.062403	0.19987	.	.	ENSG00000164867	ENST00000297494;ENST00000461406;ENST00000484524;ENST00000467517	T;T;T;T	0.22743	1.97;1.94;1.97;1.97	5.03	2.1	0.27182	Nitric oxide synthase, oxygenase domain (2);	0.442898	0.21205	N	0.078409	T	0.07143	0.0181	N	0.03324	-0.35	0.34677	D	0.724325	B;B;B;B;B	0.29590	0.006;0.006;0.25;0.001;0.005	B;B;B;B;B	0.28638	0.003;0.004;0.092;0.001;0.016	T	0.28106	-1.0054	10	0.26408	T	0.33	-16.2932	3.3773	0.07242	0.3227:0.0:0.4997:0.1775	rs61761728	474;474;474;268;474	A0S0A6;E9PFR2;A0S0A8;E7ESA7;P29474	.;.;.;.;NOS3_HUMAN	H	474;268;474;474	ENSP00000297494:R474H;ENSP00000417143:R268H;ENSP00000420215:R474H;ENSP00000420551:R474H	ENSP00000297494:R474H	R	+	2	0	NOS3	150329439	0.619000	0.27059	1.000000	0.80357	0.905000	0.53344	0.320000	0.19540	0.108000	0.17862	0.561000	0.74099	CGC		0.597	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603	
RNF24	11237	hgsc.bcm.edu	37	20	3944554	3944554	+	Missense_Mutation	SNP	G	G	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:3944554G>C	ENST00000336095.6	-	2	362	c.111C>G	c.(109-111)atC>atG	p.I37M	RNF24_ENST00000432261.2_Missense_Mutation_p.I58M|RNF24_ENST00000545616.2_Missense_Mutation_p.I58M|RNF24_ENST00000358395.6_Missense_Mutation_p.I37M	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24	37						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(1)|upper_aerodigestive_tract(1)	2						GTAAACTAAGGATGAAGACAA	0.318																																																	0			20											80.0	75.0	77.0					20																	3944554		2203	4300	6503	3892554	SO:0001583	missense	11237			AF151081	CCDS13074.1, CCDS46577.1	20p13	2013-01-09			ENSG00000101236	ENSG00000101236		"""RING-type (C3HC4) zinc fingers"""	13779	protein-coding gene	gene with protein product		612489					Standard	NM_007219		Approved	G1L	uc002wki.2	Q9Y225	OTTHUMG00000031770	ENST00000336095.6:c.111C>G	20.37:g.3944554G>C	ENSP00000336753:p.Ile37Met		3892554	D3DVZ2|D3DVZ3|Q9UMH1	Missense_Mutation	SNP	ENST00000336095.6	37	CCDS13074.1	.	.	.	.	.	.	.	.	.	.	G	2.982	-0.210027	0.06140	.	.	ENSG00000101236	ENST00000336095;ENST00000358395;ENST00000545616;ENST00000432261	T;T;T;T	0.25085	1.84;1.84;1.82;1.82	6.02	0.611	0.17586	.	0.000000	0.85682	D	0.000000	T	0.06325	0.0163	N	0.01168	-0.975	0.49915	D	0.999835	B;B	0.31680	0.335;0.141	B;B	0.31751	0.135;0.032	T	0.23476	-1.0187	10	0.19147	T	0.46	-15.9977	2.9581	0.05883	0.2084:0.1214:0.5449:0.1253	.	58;37	Q9Y225-2;Q9Y225	.;RNF24_HUMAN	M	37;37;58;58	ENSP00000336753:I37M;ENSP00000351166:I37M;ENSP00000444711:I58M;ENSP00000388550:I58M	ENSP00000336753:I37M	I	-	3	3	RNF24	3892554	1.000000	0.71417	0.999000	0.59377	0.377000	0.30045	1.575000	0.36493	0.154000	0.19237	-0.903000	0.02851	ATC		0.318	RNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077795.2		
PAK7	57144	hgsc.bcm.edu	37	20	9561556	9561556	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:9561556G>A	ENST00000378429.3	-	5	772	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	PAK7_ENST00000353224.5_Missense_Mutation_p.P76S|PAK7_ENST00000378423.1_Missense_Mutation_p.P76S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	76	Linker.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.P76T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCCTTGCAGGGTTTGTTTCCT	0.458																																																	1	Substitution - Missense(1)	lung(1)	20											93.0	95.0	94.0					20																	9561556		2203	4300	6503	9509556	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.226C>T	20.37:g.9561556G>A	ENSP00000367686:p.Pro76Ser		9509556	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	G	5.764	0.325416	0.10900	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.47177	0.85;0.85;0.85	5.82	4.63	0.57726	.	0.140389	0.64402	N	0.000003	T	0.33731	0.0873	N	0.25647	0.755	0.48185	D	0.999605	B;B	0.06786	0.0;0.001	B;B	0.15870	0.001;0.014	T	0.07888	-1.0749	9	.	.	.	.	12.4512	0.55679	0.0996:0.0:0.9004:0.0	.	76;76	B0AZM9;Q9P286	.;PAK7_HUMAN	S	76;76;76;24	ENSP00000367686:P76S;ENSP00000322957:P76S;ENSP00000367679:P76S	.	P	-	1	0	PAK7	9509556	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.678000	0.61641	1.098000	0.41479	0.655000	0.94253	CCC		0.458	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
KIF16B	55614	hgsc.bcm.edu	37	20	16348113	16348113	+	Intron	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:16348113C>T	ENST00000354981.2	-	22	3656				KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000408042.1_Missense_Mutation_p.R1286H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B						ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AGATCGAATGCGTGGATAAAA	0.458																																																	0			20											179.0	163.0	168.0					20																	16348113		876	1991	2867	16296113	SO:0001627	intron_variant	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3498+3117G>A	20.37:g.16348113C>T			16296113	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	10.69	1.421148	0.25639	.	.	ENSG00000089177	ENST00000408042	T	0.69685	-0.42	5.38	-10.8	0.00216	.	4.092030	0.00967	N	0.003197	T	0.41026	0.1141	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18147	-1.0346	9	0.37606	T	0.19	.	1.6125	0.02696	0.2336:0.3226:0.2562:0.1877	.	1286	Q96L93-2	.	H	1286	ENSP00000384164:R1286H	ENSP00000384164:R1286H	R	-	2	0	KIF16B	16296113	0.000000	0.05858	0.000000	0.03702	0.078000	0.17371	-2.419000	0.01033	-1.651000	0.01504	0.544000	0.68410	CGC		0.458	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
DTD1	92675	hgsc.bcm.edu	37	20	18576856	18576856	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:18576856G>A	ENST00000377452.3	+	3	521	c.341G>A	c.(340-342)cGt>cAt	p.R114H	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	114					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						GAGCAGCTGCGTAAAACATAC	0.532																																																	0			20											53.0	50.0	51.0					20																	18576856		2203	4300	6503	18524856	SO:0001583	missense	92675			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.341G>A	20.37:g.18576856G>A	ENSP00000366672:p.Arg114His		18524856	A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Missense_Mutation	SNP	ENST00000377452.3	37	CCDS13138.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577167	0.86645	.	.	ENSG00000125821	ENST00000377452	.	.	.	5.83	5.83	0.93111	D-Tyr tRNAtyr deacylase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.84124	0.5403	M	0.92970	3.365	0.80722	D	1	D	0.67145	0.996	P	0.56960	0.81	D	0.87242	0.2267	9	0.62326	D	0.03	-7.2791	19.0992	0.93266	0.0:0.0:1.0:0.0	.	114	Q8TEA8	DTD1_HUMAN	H	114	.	ENSP00000366672:R114H	R	+	2	0	DTD1	18524856	1.000000	0.71417	0.971000	0.41717	0.359000	0.29487	7.950000	0.87804	2.741000	0.93983	0.655000	0.94253	CGT		0.532	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078189.3	NM_080820	
BPIFA3	128861	hgsc.bcm.edu	37	20	31805446	31805446	+	Missense_Mutation	SNP	A	A	G	rs564972529		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:31805446A>G	ENST00000375454.3	+	1	314	c.104A>G	c.(103-105)gAc>gGc	p.D35G	RP11-49G10.3_ENST00000419613.1_RNA|BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Missense_Mutation_p.D35G	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3	35						extracellular region (GO:0005576)	lipid binding (GO:0008289)										GCCCACAGAGACAACAAATCC	0.622													A|||	1	0.000199681	0.0	0.0	5008	,	,		18879	0.0		0.0	False		,,,				2504	0.001																0			20											86.0	79.0	81.0					20																	31805446		2203	4300	6503	31269107	SO:0001583	missense	128861				CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.104A>G	20.37:g.31805446A>G	ENSP00000364603:p.Asp35Gly		31269107	Q5JWG8|Q6NZ38	Missense_Mutation	SNP	ENST00000375454.3	37	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	A	7.233	0.599747	0.13939	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	T;T	0.44083	0.93;1.09	4.36	2.13	0.27403	.	0.494508	0.17292	N	0.179589	T	0.27278	0.0669	L	0.29908	0.895	0.09310	N	1	B;P	0.40970	0.004;0.734	B;B	0.37731	0.006;0.257	T	0.13202	-1.0518	10	0.87932	D	0	-8.8923	5.8413	0.18635	0.789:0.0:0.211:0.0	.	35;35	Q9BQP9-2;Q9BQP9	.;BPIA3_HUMAN	G	35	ENSP00000364603:D35G;ENSP00000364601:D35G	ENSP00000364601:D35G	D	+	2	0	BPIFA3	31269107	0.528000	0.26314	0.010000	0.14722	0.060000	0.15804	1.269000	0.33074	0.458000	0.26988	0.533000	0.62120	GAC		0.622	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	
NCOA6	23054	hgsc.bcm.edu	37	20	33328653	33328653	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:33328653A>G	ENST00000374796.2	-	12	7977	c.5407T>C	c.(5407-5409)Tcc>Ccc	p.S1803P	NCOA6_ENST00000359003.2_Missense_Mutation_p.S1803P			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1803	EP300/CRSP3-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TTGCCAGAGGACCCTGGACTA	0.488																																																	0			20											79.0	78.0	78.0					20																	33328653		2203	4300	6503	32792314	SO:0001583	missense	23054			AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.5407T>C	20.37:g.33328653A>G	ENSP00000363929:p.Ser1803Pro		32792314	A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Missense_Mutation	SNP	ENST00000374796.2	37	CCDS13241.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.211721	0.58452	.	.	ENSG00000198646	ENST00000374796;ENST00000359003	T;T	0.25085	1.82;1.82	5.65	5.65	0.86999	.	0.280434	0.31531	N	0.007485	T	0.14657	0.0354	N	0.12182	0.205	0.31858	N	0.621315	P	0.44090	0.826	B	0.41860	0.368	T	0.08146	-1.0736	10	0.25751	T	0.34	-7.4797	9.077	0.36527	0.8369:0.0:0.0:0.1631	.	1803	Q14686	NCOA6_HUMAN	P	1803	ENSP00000363929:S1803P;ENSP00000351894:S1803P	ENSP00000351894:S1803P	S	-	1	0	NCOA6	32792314	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.196000	0.51020	2.371000	0.80710	0.533000	0.62120	TCC		0.488	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071	
RBM12	10137	hgsc.bcm.edu	37	20	34242181	34242181	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:34242181T>C	ENST00000374114.3	-	3	1327	c.1064A>G	c.(1063-1065)gAt>gGt	p.D355G	CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.D355G|CPNE1_ENST00000317677.5_5'Flank|CPNE1_ENST00000397446.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.D355G|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397442.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	355	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			TTCAAATGTATCTTGAGGGGA	0.433											OREG0004044	type=REGULATORY REGION|Gene=CPNE1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0			20											152.0	148.0	149.0					20																	34242181		2203	4300	6503	33705595	SO:0001583	missense	10137			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.1064A>G	20.37:g.34242181T>C	ENSP00000363228:p.Asp355Gly	846	33705595	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	ENST00000374114.3	37	CCDS13261.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177462	0.57692	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.35421	1.31;1.31;1.31	4.92	4.92	0.64577	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.068850	0.56097	D	0.000029	T	0.55986	0.1955	L	0.61036	1.89	0.80722	D	1	P	0.52842	0.956	D	0.66196	0.942	T	0.59679	-0.7409	10	0.72032	D	0.01	-11.4275	14.8093	0.69982	0.0:0.0:0.0:1.0	.	355	Q9NTZ6	RBM12_HUMAN	G	355;355;355;154	ENSP00000363228:D355G;ENSP00000352668:D355G;ENSP00000363217:D355G	ENSP00000339879:D154G	D	-	2	0	RBM12	33705595	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.525000	0.81892	2.083000	0.62718	0.449000	0.29647	GAT		0.433	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078894.1	NM_006047	
PREX1	57580	hgsc.bcm.edu	37	20	47305234	47305234	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:47305234C>T	ENST00000371941.3	-	10	1317	c.1295G>A	c.(1294-1296)cGg>cAg	p.R432Q	PREX1_ENST00000396220.1_Missense_Mutation_p.R432Q	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	432	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R432Q(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CAGCTTTCTCCGGCGGTCCTT	0.562																																																	1	Substitution - Missense(1)	ovary(1)	20											167.0	119.0	136.0					20																	47305234		2203	4300	6503	46738641	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1295G>A	20.37:g.47305234C>T	ENSP00000361009:p.Arg432Gln		46738641	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795891	0.90453	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.28895	1.59;1.59	5.29	4.35	0.52113	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.56097	U	0.000034	T	0.45034	0.1322	M	0.75884	2.315	0.51767	D	0.999934	D	0.56287	0.975	P	0.50791	0.65	T	0.51934	-0.8642	10	0.72032	D	0.01	.	13.8488	0.63483	0.0:0.9265:0.0:0.0735	.	432	Q8TCU6	PREX1_HUMAN	Q	432	ENSP00000361009:R432Q;ENSP00000379522:R432Q	ENSP00000361009:R432Q	R	-	2	0	PREX1	46738641	0.965000	0.33210	0.619000	0.29118	0.996000	0.88848	3.822000	0.55708	1.229000	0.43630	0.563000	0.77884	CGG		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
STAU1	6780	hgsc.bcm.edu	37	20	47741010	47741010	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:47741010C>T	ENST00000371856.2	-	7	1134	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	STAU1_ENST00000340954.7_Missense_Mutation_p.A161T|STAU1_ENST00000371828.3_Missense_Mutation_p.A167T|STAU1_ENST00000347458.5_Missense_Mutation_p.A161T|STAU1_ENST00000371792.1_Missense_Mutation_p.A161T|STAU1_ENST00000371802.1_Missense_Mutation_p.A167T|STAU1_ENST00000360426.4_Missense_Mutation_p.A161T	NM_017453.2	NP_059347.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	242	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				intracellular mRNA localization (GO:0008298)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|rough endoplasmic reticulum (GO:0005791)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.A242T(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCTATGGCGGCATTTTTC	0.468																																																	1	Substitution - Missense(1)	ovary(1)	20											163.0	181.0	175.0					20																	47741010		2203	4300	6503	47174417	SO:0001583	missense	6780				CCDS13414.1, CCDS13415.1, CCDS33481.1	20q13.1	2014-06-13	2013-06-05	2005-11-04	ENSG00000124214	ENSG00000124214			11370	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 150"""	601716	"""staufen (Drosophila, RNA-binding protein)"", ""staufen, RNA binding protein (Drosophila)"", ""staufen, RNA binding protein, homolog 1 (Drosophila)"""	STAU		8884277, 15680326	Standard	XM_005260524		Approved	PPP1R150	uc002xud.3	O95793	OTTHUMG00000032691	ENST00000371856.2:c.724G>A	20.37:g.47741010C>T	ENSP00000360922:p.Ala242Thr		47174417	A8K9Z4|E1P5Y1|E1P608|Q5JW29|Q6GTM4|Q9H5B4|Q9H5B5|Q9Y3Q2	Missense_Mutation	SNP	ENST00000371856.2	37	CCDS13414.1	.	.	.	.	.	.	.	.	.	.	C	34	5.337601	0.95758	.	.	ENSG00000124214	ENST00000371828;ENST00000340954;ENST00000371856;ENST00000360426;ENST00000347458;ENST00000371805;ENST00000371802;ENST00000371792;ENST00000437404	D;D;D;D;D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46;-3.46	5.33	5.33	0.75918	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.98795	0.9594	H	0.99650	4.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99461	1.0943	10	0.87932	D	0	-10.4462	19.0449	0.93015	0.0:1.0:0.0:0.0	.	242;167	O95793;Q5JW29	STAU1_HUMAN;.	T	167;161;242;161;161;161;167;161;167	ENSP00000360893:A167T;ENSP00000345425:A161T;ENSP00000360922:A242T;ENSP00000353604:A161T;ENSP00000323443:A161T;ENSP00000360867:A167T;ENSP00000360857:A161T;ENSP00000416779:A167T	ENSP00000345425:A161T	A	-	1	0	STAU1	47174417	1.000000	0.71417	0.376000	0.26042	0.702000	0.40608	7.814000	0.86154	2.492000	0.84095	0.650000	0.86243	GCC		0.468	STAU1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079633.1	NM_017453	
ATP9A	10079	hgsc.bcm.edu	37	20	50292694	50292694	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:50292694T>A	ENST00000338821.5	-	10	1117	c.853A>T	c.(853-855)Aat>Tat	p.N285Y	ATP9A_ENST00000402822.1_Missense_Mutation_p.N164Y|ATP9A_ENST00000311637.5_Missense_Mutation_p.N149Y	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	285					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTGAGGTATTCATGACACTC	0.413																																																	0			20											96.0	87.0	90.0					20																	50292694		2203	4300	6503	49726101	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.853A>T	20.37:g.50292694T>A	ENSP00000342481:p.Asn285Tyr		49726101	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	37	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.741611	0.89573	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.90844	-1.52;-2.74;-1.53	5.61	5.61	0.85477	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	H	0.95574	3.69	0.80722	D	1	P;D	0.89917	0.566;1.0	B;D	0.83275	0.175;0.996	D	0.97992	1.0355	10	0.87932	D	0	-28.9316	15.7941	0.78394	0.0:0.0:0.0:1.0	.	164;285	O75110-2;O75110	.;ATP9A_HUMAN	Y	149;285;164	ENSP00000309086:N149Y;ENSP00000342481:N285Y;ENSP00000385875:N164Y	ENSP00000309086:N149Y	N	-	1	0	ATP9A	49726101	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	7.638000	0.83328	2.123000	0.65237	0.533000	0.62120	AAT		0.413	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
TSHZ2	128553	hgsc.bcm.edu	37	20	51873043	51873043	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:51873043A>G	ENST00000371497.5	+	2	3933	c.3046A>G	c.(3046-3048)Acg>Gcg	p.T1016A	TSHZ2_ENST00000329613.6_Missense_Mutation_p.T1013A|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T1013A	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1016					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCTAAGCAAAACGCACAGCAA	0.463																																																	0			20											131.0	117.0	122.0					20																	51873043		2203	4300	6503	51306450	SO:0001583	missense	128553			AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.3046A>G	20.37:g.51873043A>G	ENSP00000360552:p.Thr1016Ala		51306450	B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	A	18.94	3.729010	0.69074	.	.	ENSG00000182463	ENST00000371497;ENST00000329613	T;T	0.24908	1.84;1.83	5.7	5.7	0.88788	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	M	0.77616	2.38	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.58284	-0.7663	10	0.72032	D	0.01	-1.6328	15.957	0.79893	1.0:0.0:0.0:0.0	.	1016	Q9NRE2	TSH2_HUMAN	A	1016;1013	ENSP00000360552:T1016A;ENSP00000333114:T1013A	ENSP00000333114:T1013A	T	+	1	0	TSHZ2	51306450	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.956000	0.93066	2.168000	0.68352	0.523000	0.50628	ACG		0.463	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485	
CECR2	27443	hgsc.bcm.edu	37	22	18028280	18028280	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr22:18028280G>A	ENST00000400585.2	+	17	3249	c.2811G>A	c.(2809-2811)ccG>ccA	p.P937P	CECR2_ENST00000400573.5_Silent_p.P1079P|CECR2_ENST00000262608.8_Silent_p.P1080P			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	1121					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.P1079P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CAGCGACACCGCCCAGCACAG	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)	22											27.0	32.0	31.0					22																	18028280		2172	4263	6435	16408280	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2811G>A	22.37:g.18028280G>A			16408280	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	ENST00000400585.2	37																																																																																					0.597	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2	NM_031413	
SEZ6L	23544	hgsc.bcm.edu	37	22	26747060	26747060	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr22:26747060G>A	ENST00000248933.6	+	12	2545	c.2450G>A	c.(2449-2451)cGc>cAc	p.R817H	SEZ6L_ENST00000404234.3_Missense_Mutation_p.R817H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.R817H|SEZ6L_ENST00000343706.4_Missense_Mutation_p.R817H|SEZ6L_ENST00000411842.2_Missense_Mutation_p.R14H|SEZ6L_ENST00000402979.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000403121.1_Missense_Mutation_p.R590H|SEZ6L_ENST00000360929.3_Intron			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	817	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CACTCGACCCGCTTAATTTCG	0.547																																																	0			22											117.0	102.0	107.0					22																	26747060		2203	4300	6503	25077060	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2450G>A	22.37:g.26747060G>A	ENSP00000248933:p.Arg817His		25077060	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	g	28.4	4.913610	0.92178	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979;ENST00000411842	T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	4.54	4.54	0.55810	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000035	T	0.76183	0.3952	M	0.72118	2.19	0.54753	D	0.99998	D;D;D;D;D;D	0.59357	0.961;0.985;0.977;0.978;0.968;0.985	P;P;P;P;P;P	0.62298	0.757;0.9;0.833;0.79;0.828;0.9	T	0.79548	-0.1758	10	0.66056	D	0.02	.	16.5015	0.84257	0.0:0.0:1.0:0.0	.	817;817;590;817;817;817	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	817;817;817;817;590;590;14	ENSP00000384772:R817H;ENSP00000437037:R817H;ENSP00000248933:R817H;ENSP00000342661:R817H;ENSP00000384838:R590H;ENSP00000384733:R590H;ENSP00000397274:R14H	ENSP00000248933:R817H	R	+	2	0	SEZ6L	25077060	1.000000	0.71417	0.995000	0.50966	0.697000	0.40408	8.815000	0.91973	2.381000	0.81170	0.539000	0.68188	CGC		0.547	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
CSDC2	27254	hgsc.bcm.edu	37	22	41970768	41970768	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr22:41970768G>A	ENST00000306149.7	+	4	875	c.331G>A	c.(331-333)Gac>Aac	p.D111N		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	111	CSD.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						AGTGGAGGGCGACGAGGTGAC	0.642																																					NSCLC(181;294 2110 12667 14717 31090)												0			22											93.0	69.0	77.0					22																	41970768		2203	4300	6503	40300714	SO:0001583	missense	27254			AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.331G>A	22.37:g.41970768G>A	ENSP00000302485:p.Asp111Asn		40300714	Q8ND37	Missense_Mutation	SNP	ENST00000306149.7	37	CCDS14019.1	.	.	.	.	.	.	.	.	.	.	g	24.2	4.506827	0.85282	.	.	ENSG00000172346	ENST00000306149	.	.	.	5.02	4.0	0.46444	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (1);Nucleic acid-binding, OB-fold (1);	0.052250	0.85682	D	0.000000	T	0.77758	0.4178	H	0.95224	3.64	0.80722	D	1	B	0.34255	0.445	B	0.35813	0.211	D	0.83379	0.0011	9	0.87932	D	0	.	15.6339	0.76933	0.0:0.1376:0.8624:0.0	.	111	Q9Y534	CSDC2_HUMAN	N	111	.	ENSP00000302485:D111N	D	+	1	0	CSDC2	40300714	1.000000	0.71417	0.736000	0.30914	0.598000	0.36846	7.797000	0.85911	1.323000	0.45263	0.651000	0.88453	GAC		0.642	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320689.1	NM_014460	
UBR7	55148	hgsc.bcm.edu	37	14	93678456	93678456	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr14:93678456C>G	ENST00000013070.6	+	4	660	c.424C>G	c.(424-426)Cct>Gct	p.P142A	RP11-371E8.4_ENST00000557574.1_Missense_Mutation_p.P161A|UBR7_ENST00000416753.1_Missense_Mutation_p.P66A|RP11-371E8.4_ENST00000557048.1_3'UTR	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	142							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GAGACCTTATCCTGATCCTGA	0.413																																																	0			14											77.0	73.0	74.0					14																	93678456		2203	4300	6503	92748209	SO:0001583	missense	55148			AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.424C>G	14.37:g.93678456C>G	ENSP00000013070:p.Pro142Ala		92748209	Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	CCDS9909.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	27.7|27.7|27.7	4.855562|4.855562|4.855562	0.91355|0.91355|0.91355	.|.|.	.|.|.	ENSG00000012963|ENSG00000259066;ENSG00000012963;ENSG00000012963;ENSG00000012963|ENSG00000012963	ENST00000553857|ENST00000557574;ENST00000013070;ENST00000535646;ENST00000416753|ENST00000555113	.|T;T;T|.	.|0.76186|.	.|-1.0;-0.01;-0.01|.	5.89|5.89|5.89	5.89|5.89|5.89	0.94794|0.94794|0.94794	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.84506|0.84506|0.84506	0.5487|0.5487|0.5487	M|M|M	0.87097|0.87097|0.87097	2.86|2.86|2.86	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D|.	.|0.89917|.	.|1.0;1.0|.	.|D;D|.	.|0.97110|.	.|1.0;1.0|.	D|D|D	0.85206|0.85206|0.85206	0.1018|0.1018|0.1018	5|10|5	.|0.66056|.	.|D|.	.|0.02|.	-22.8126|-22.8126|-22.8126	20.2361|20.2361|20.2361	0.98357|0.98357|0.98357	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|66;142|.	.|E9PCJ7;Q8N806|.	.|.;UBR7_HUMAN|.	M|A|C	67|161;142;66;66|132	.|ENSP00000451369:P161A;ENSP00000013070:P142A;ENSP00000391706:P66A|.	.|ENSP00000013070:P142A|.	I|P|S	+|+|+	3|1|2	3|0|0	UBR7|RP11-371E8.4;UBR7|UBR7	92748209|92748209|92748209	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	7.561000|7.561000|7.561000	0.82288|0.82288|0.82288	2.791000|2.791000|2.791000	0.96007|0.96007|0.96007	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	ATC|CCT|TCC		0.413	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748	
EIF5	1983	hgsc.bcm.edu	37	14	103807329	103807329	+	Silent	SNP	G	G	A	rs140137312		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr14:103807329G>A	ENST00000216554.3	+	12	1912	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	EIF5_ENST00000392715.2_Silent_p.P412P|EIF5_ENST00000558506.1_Silent_p.P412P	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	412					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			CCAGTGTACCGAAAGTTGAGA	0.363																																																	0			14						G	,	0,4406		0,0,2203	150.0	124.0	133.0		1236,1236	-4.1	0.9	14	dbSNP_134	133	2,8598		0,2,4298	no	coding-synonymous,coding-synonymous	EIF5	NM_001969.3,NM_183004.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	412/432,412/432	103807329	2,13004	2203	4300	6503	102877082	SO:0001819	synonymous_variant	1983			U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.1236G>A	14.37:g.103807329G>A			102877082	Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	CCDS9980.1																																																																																				0.363	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969	
PLIN5	440503	hgsc.bcm.edu	37	19	4531793	4531793	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr19:4531793G>A	ENST00000381848.3	-	3	182	c.102C>T	c.(100-102)gcC>gcT	p.A34A	CTB-50L17.14_ENST00000586020.1_Missense_Mutation_p.P52L	NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	34	Essential for lipid droplet targeting. {ECO:0000250}.|Interaction with LIPE. {ECO:0000250}.				lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|mitochondrion localization (GO:0051646)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of lipase activity (GO:0060192)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of triglyceride catabolic process (GO:0010897)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of lipase activity (GO:0060193)|positive regulation of lipid storage (GO:0010884)|positive regulation of sequestering of triglyceride (GO:0010890)|positive regulation of triglyceride biosynthetic process (GO:0010867)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CGGTGCACGTGGCCCTGACCA	0.687																																																	0			19											10.0	13.0	12.0					19																	4531793		2038	4160	6198	4482793	SO:0001819	synonymous_variant	0			DQ839131	CCDS42473.1	19p13.3	2009-08-12			ENSG00000214456	ENSG00000214456		"""Perilipins"""	33196	protein-coding gene	gene with protein product	"""lipid storage droplet protein 5"""	613248				17234449, 19638644	Standard	NM_001013706		Approved	LSDP5, LSDA5, OXPAT, MLDP	uc002mas.3	Q00G26		ENST00000381848.3:c.102C>T	19.37:g.4531793G>A			4482793	A2RRC1|Q6ZS68	Silent	SNP	ENST00000381848.3	37	CCDS42473.1																																																																																				0.687	PLIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458647.1	NM_001013706	
MUC16	94025	hgsc.bcm.edu	37	19	9076366	9076366	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr19:9076366T>G	ENST00000397910.4	-	3	11283	c.11080A>C	c.(11080-11082)Agt>Cgt	p.S3694R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3695	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGTCCAACTTGTACTTAAA	0.443																																																	0			19											98.0	94.0	95.0					19																	9076366		1955	4152	6107	8937366	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.11080A>C	19.37:g.9076366T>G	ENSP00000381008:p.Ser3694Arg		8937366	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	5.307	0.242014	0.10077	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	2.03	2.03	0.26663	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	.	.	.	P	0.35208	0.49	B	0.43728	0.429	T	0.33599	-0.9862	8	0.87932	D	0	.	6.0601	0.19832	0.0:0.0:0.0:1.0	.	3694	B5ME49	.	R	3694	ENSP00000381008:S3694R	ENSP00000381008:S3694R	S	-	1	0	MUC16	8937366	0.016000	0.18221	0.016000	0.15963	0.085000	0.17905	1.839000	0.39220	1.173000	0.42796	0.260000	0.18958	AGT		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
HAPLN4	404037	hgsc.bcm.edu	37	19	19371743	19371743	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr19:19371743G>A	ENST00000291481.7	-	3	426	c.363C>T	c.(361-363)gaC>gaT	p.D121D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	121	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	CCCCAGGCCCGTCGCCCTGCA	0.662																																																	0			19											55.0	53.0	54.0					19																	19371743		2203	4300	6503	19232743	SO:0001819	synonymous_variant	404037			AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.363C>T	19.37:g.19371743G>A			19232743	A5PKW5|Q96PW2	Silent	SNP	ENST00000291481.7	37	CCDS12398.1																																																																																				0.662	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002	
ZNF90	7643	hgsc.bcm.edu	37	19	20228743	20228743	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr19:20228743A>G	ENST00000418063.2	+	4	492	c.380A>G	c.(379-381)aAa>aGa	p.K127R	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	127					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAAGTACACAAAAGAGGTTAT	0.328																																																	0			19											119.0	110.0	112.0					19																	20228743		692	1591	2283	20089743	SO:0001583	missense	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.380A>G	19.37:g.20228743A>G	ENSP00000410466:p.Lys127Arg		20089743	B9EH87	Missense_Mutation	SNP	ENST00000418063.2	37	CCDS46028.1	.	.	.	.	.	.	.	.	.	.	a	6.655	0.489375	0.12641	.	.	ENSG00000213988	ENST00000418063	T	0.04970	3.52	0.81	-1.62	0.08372	.	.	.	.	.	T	0.09024	0.0223	M	0.90082	3.085	0.09310	N	1	P	0.44195	0.828	B	0.35859	0.212	T	0.09930	-1.0652	9	0.31617	T	0.26	.	4.1737	0.10341	0.7415:0.0:0.2585:0.0	.	127	Q03938	ZNF90_HUMAN	R	127	ENSP00000410466:K127R	ENSP00000410466:K127R	K	+	2	0	ZNF90	20089743	0.000000	0.05858	0.036000	0.18154	0.036000	0.12997	-1.636000	0.02016	-1.367000	0.02152	-1.412000	0.01120	AAA		0.328	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	NM_007138	
DYRK1B	9149	hgsc.bcm.edu	37	19	40320645	40320645	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr19:40320645T>C	ENST00000593685.1	-	5	863	c.395A>G	c.(394-396)cAg>cGg	p.Q132R	DYRK1B_ENST00000430012.2_Missense_Mutation_p.Q132R|DYRK1B_ENST00000597639.1_Missense_Mutation_p.Q132R|DYRK1B_ENST00000348817.3_Missense_Mutation_p.Q132R|DYRK1B_ENST00000323039.5_Missense_Mutation_p.Q132R			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CTCCTGGGTCTGATGATCATA	0.552																																																	0			19											109.0	97.0	101.0					19																	40320645		2203	4300	6503	45012485	SO:0001583	missense	9149			Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.395A>G	19.37:g.40320645T>C	ENSP00000469863:p.Gln132Arg		45012485	O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.653275	0.47362	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.64991	-0.13;-0.13;-0.13	4.19	4.19	0.49359	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.127014	0.53938	D	0.000047	T	0.41903	0.1179	N	0.10645	0.015	0.46078	D	0.998854	B;B;B	0.22146	0.032;0.04;0.065	B;B;B	0.25987	0.039;0.065;0.039	T	0.37291	-0.9712	10	0.44086	T	0.13	.	11.2397	0.48962	0.0:0.0:0.0:1.0	.	132;132;132	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	R	132	ENSP00000312789:Q132R;ENSP00000221803:Q132R;ENSP00000403182:Q132R	ENSP00000312789:Q132R	Q	-	2	0	DYRK1B	45012485	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	4.047000	0.57383	1.761000	0.52028	0.459000	0.35465	CAG		0.552	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714	
ADAM28	10863	hgsc.bcm.edu	37	8	24199173	24199173	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr8:24199173G>A	ENST00000265769.4	+	16	1843	c.1733G>A	c.(1732-1734)cGg>cAg	p.R578Q	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.R325Q|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	578	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R578L(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGAAAGGACGGATAGTGACT	0.423																																					NSCLC(193;488 2149 22258 34798 40734)												1	Substitution - Missense(1)	lung(1)	8											258.0	242.0	248.0					8																	24199173		2203	4300	6503	24255118	SO:0001583	missense	10863			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1733G>A	8.37:g.24199173G>A	ENSP00000265769:p.Arg578Gln		24255118	B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	4.866	0.160914	0.09287	.	.	ENSG00000042980	ENST00000265769;ENST00000397649	T;T	0.01613	4.83;4.73	5.84	0.567	0.17325	ADAM, cysteine-rich (1);	.	.	.	.	T	0.01558	0.0050	L	0.50919	1.6	0.09310	N	1	P;P	0.44816	0.844;0.844	B;B	0.35114	0.196;0.196	T	0.47235	-0.9133	9	0.15499	T	0.54	.	4.9572	0.14048	0.3117:0.0:0.5263:0.162	.	578;578	B2RMV5;Q9UKQ2	.;ADA28_HUMAN	Q	578;325	ENSP00000265769:R578Q;ENSP00000380770:R325Q	ENSP00000265769:R578Q	R	+	2	0	ADAM28	24255118	0.000000	0.05858	0.003000	0.11579	0.046000	0.14306	0.101000	0.15251	0.041000	0.15688	0.655000	0.94253	CGG		0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ZFHX4	79776	hgsc.bcm.edu	37	8	77767926	77767926	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr8:77767926T>C	ENST00000521891.2	+	10	9217	c.8769T>C	c.(8767-8769)agT>agC	p.S2923S	ZFHX4_ENST00000050961.6_Silent_p.S2878S|ZFHX4_ENST00000455469.2_Silent_p.S2878S|ZFHX4_ENST00000518282.1_Silent_p.S2897S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2878					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATCCAAAAGTAATGATCGGC	0.512										HNSCC(33;0.089)																																							0			8											53.0	52.0	52.0					8																	77767926		1903	4114	6017	77930481	SO:0001819	synonymous_variant	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8769T>C	8.37:g.77767926T>C			77930481	G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	CCDS47878.2																																																																																				0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721	
PSKH2	85481	hgsc.bcm.edu	37	8	87076416	87076416	+	Silent	SNP	G	G	A	rs376242267		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr8:87076416G>A	ENST00000276616.2	-	2	704	c.630C>T	c.(628-630)tcC>tcT	p.S210S	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			TTTTTTTCCCGGAGTATGCCA	0.423																																																	0			8						G		1,4405	2.1+/-5.4	0,1,2202	72.0	76.0	75.0		630	-1.9	1.0	8		75	0,8600		0,0,4300	no	coding-synonymous	PSKH2	NM_033126.1		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		210/386	87076416	1,13005	2203	4300	6503	87145532	SO:0001819	synonymous_variant	85481			AY037806	CCDS6240.1	8q21.13	2004-06-03				ENSG00000147613			18997	protein-coding gene	gene with protein product							Standard	NM_033126		Approved		uc011lfy.2	Q96QS6		ENST00000276616.2:c.630C>T	8.37:g.87076416G>A			87145532	A0AV22	Silent	SNP	ENST00000276616.2	37	CCDS6240.1																																																																																				0.423	PSKH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374628.1	NM_033126	
GML	2765	hgsc.bcm.edu	37	8	143922589	143922589	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr8:143922589C>T	ENST00000220940.1	+	3	219	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	43	UPAR/Ly6.				apoptotic process (GO:0006915)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|negative regulation of cell proliferation (GO:0008285)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCAACTGTCCCAACATTAGAG	0.458																																																	0			8											225.0	182.0	196.0					8																	143922589		2203	4300	6503	143919591	SO:0001819	synonymous_variant	2765			D84290	CCDS6391.1	8q24.3	2014-05-14	2012-11-02						4375	protein-coding gene	gene with protein product		602370	"""GPI anchored molecule like protein"", ""glycosylphosphatidylinositol anchored molecule like protein"""			8934543, 9169150	Standard	NM_002066		Approved	LY6DL	uc003yxg.3	Q99445		ENST00000220940.1:c.129C>T	8.37:g.143922589C>T			143919591	A0AVF6|O00686|O00731	Silent	SNP	ENST00000220940.1	37	CCDS6391.1																																																																																				0.458	GML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379659.1	NM_002066	
SPEN	23013	hgsc.bcm.edu	37	1	16257197	16257197	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:16257197A>G	ENST00000375759.3	+	11	4666	c.4462A>G	c.(4462-4464)Aga>Gga	p.R1488G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1488			R -> I (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCTGCTCCAAGACCTATTCC	0.373																																																	0			1											59.0	64.0	62.0					1																	16257197		2202	4300	6502	16129784	SO:0001583	missense	64783				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4462A>G	1.37:g.16257197A>G	ENSP00000364912:p.Arg1488Gly		16129784	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670413	0.29693	.	.	ENSG00000065526	ENST00000375759	T	0.17691	2.26	5.27	4.11	0.48088	.	.	.	.	.	T	0.27765	0.0683	L	0.34521	1.04	0.54753	D	0.999981	D	0.89917	1.0	D	0.66716	0.946	T	0.01121	-1.1445	9	0.46703	T	0.11	-20.8008	12.239	0.54532	0.8577:0.1423:0.0:0.0	.	1488	Q96T58	MINT_HUMAN	G	1488	ENSP00000364912:R1488G	ENSP00000364912:R1488G	R	+	1	2	SPEN	16129784	0.998000	0.40836	0.997000	0.53966	0.996000	0.88848	3.323000	0.52014	0.976000	0.38417	0.460000	0.39030	AGA		0.373	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001	
CSF3R	1441	hgsc.bcm.edu	37	1	36937230	36937230	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:36937230T>C	ENST00000373106.1	-	10	1636	c.1089A>G	c.(1087-1089)gaA>gaG	p.E363E	CSF3R_ENST00000361632.4_Silent_p.E363E|CSF3R_ENST00000373104.1_Silent_p.E363E|CSF3R_ENST00000373103.1_Silent_p.E363E|CSF3R_ENST00000331941.5_Silent_p.E363E|CSF3R_ENST00000440588.2_Silent_p.E363E|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000418048.2_Silent_p.E363E|CSF3R_ENST00000338937.5_Silent_p.E363E	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	363	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)	p.E363D(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GTCCGCTGTCTTCCTCCAGGG	0.592																																																	1	Substitution - Missense(1)	ovary(1)	1											69.0	70.0	70.0					1																	36937230		2203	4300	6503	36709817	SO:0001819	synonymous_variant	1441			M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.1089A>G	1.37:g.36937230T>C			36709817		Silent	SNP	ENST00000373106.1	37	CCDS413.1																																																																																				0.592	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039	
TESK2	10420	hgsc.bcm.edu	37	1	45812692	45812692	+	Missense_Mutation	SNP	C	C	T	rs374778347		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:45812692C>T	ENST00000372086.3	-	8	1151	c.751G>A	c.(751-753)Gcc>Acc	p.A251T	TESK2_ENST00000486676.1_5'UTR|TESK2_ENST00000372084.1_Missense_Mutation_p.A251T|TESK2_ENST00000538496.1_Missense_Mutation_p.A168T|TESK2_ENST00000341771.6_Missense_Mutation_p.A251T	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|focal adhesion assembly (GO:0048041)|protein phosphorylation (GO:0006468)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					TGGATGCGGGCGATGATCTCG	0.537																																																	0			1						C	THR/ALA	0,4038		0,0,2019	104.0	108.0	107.0		751	6.0	1.0	1		107	1,8343		0,1,4171	no	missense	TESK2	NM_007170.2	58	0,1,6190	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	251/572	45812692	1,12381	2019	4172	6191	45585279	SO:0001583	missense	10420			AJ132545	CCDS41323.1	1p32	2010-04-27			ENSG00000070759	ENSG00000070759	2.7.12.1		11732	protein-coding gene	gene with protein product		604746				10512679	Standard	NM_007170		Approved		uc001cns.1	Q96S53	OTTHUMG00000007680	ENST00000372086.3:c.751G>A	1.37:g.45812692C>T	ENSP00000361158:p.Ala251Thr		45585279	Q5T422|Q5T423|Q8N520|Q9Y3Q6	Missense_Mutation	SNP	ENST00000372086.3	37	CCDS41323.1	.	.	.	.	.	.	.	.	.	.	C	34	5.326504	0.95708	0.0	1.2E-4	ENSG00000070759	ENST00000372084;ENST00000372086;ENST00000372083;ENST00000341771;ENST00000538496	D;T;D;T	0.86865	-2.18;0.35;-2.18;0.35	5.96	5.96	0.96718	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.180825	0.39341	N	0.001386	D	0.84488	0.5483	N	0.02275	-0.615	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72982	0.947;0.979	D	0.84395	0.0557	10	0.19590	T	0.45	-6.1614	20.4123	0.99019	0.0:1.0:0.0:0.0	.	251;251	Q96S53-3;Q96S53	.;TESK2_HUMAN	T	251;251;235;251;168	ENSP00000361156:A251T;ENSP00000361158:A251T;ENSP00000343940:A251T;ENSP00000441746:A168T	ENSP00000343940:A251T	A	-	1	0	TESK2	45585279	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.071000	0.71229	2.824000	0.97209	0.655000	0.94253	GCC		0.537	TESK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020523.1	NM_007170	
LRP8	7804	hgsc.bcm.edu	37	1	53727865	53727865	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:53727865G>A	ENST00000306052.6	-	12	1890	c.1789C>T	c.(1789-1791)Cgc>Tgc	p.R597C	LRP8_ENST00000465675.1_Missense_Mutation_p.R150C|LRP8_ENST00000371454.2_Missense_Mutation_p.R597C|LRP8_ENST00000347547.2_Missense_Mutation_p.R427C|LRP8_ENST00000354412.3_Missense_Mutation_p.R468C|LRP8_ENST00000460214.1_5'UTR	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	597					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						CAGTACAAGCGCTGGCTCAGC	0.537																																																	0			1											104.0	103.0	104.0					1																	53727865		2203	4300	6503	53500453	SO:0001583	missense	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1789C>T	1.37:g.53727865G>A	ENSP00000303634:p.Arg597Cys		53500453	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	37	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318778	0.95682	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	6.16	6.16	0.99307	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.98770	0.9586	M	0.93978	3.48	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0;0.99	D	0.98886	1.0771	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	150;468;427;597;597;150	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	C	597;597;150;468;427	ENSP00000303634:R597C;ENSP00000360509:R597C;ENSP00000437009:R150C;ENSP00000346391:R468C;ENSP00000334522:R427C	ENSP00000303634:R597C	R	-	1	0	LRP8	53500453	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	CGC		0.537	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631	
ZZZ3	26009	hgsc.bcm.edu	37	1	78097673	78097673	+	Missense_Mutation	SNP	G	G	T	rs201029873		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:78097673G>T	ENST00000370801.3	-	5	1842	c.1367C>A	c.(1366-1368)cCc>cAc	p.P456H	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	456			P -> S (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGCCTCTGAGGGTGGTTTACT	0.393																																																	0			1											181.0	166.0	171.0					1																	78097673		2203	4300	6503	77870261	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1367C>A	1.37:g.78097673G>T	ENSP00000359837:p.Pro456His		77870261	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	G	3.684	-0.064909	0.07273	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.74	5.74	0.90152	.	0.378995	0.30483	N	0.009523	T	0.41789	0.1174	L	0.43152	1.355	0.80722	D	1	P;B;B	0.52842	0.956;0.145;0.226	P;B;B	0.52267	0.694;0.189;0.348	T	0.34576	-0.9823	8	.	.	.	.	8.9209	0.35610	0.0794:0.0:0.7707:0.1499	.	456;456;456	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	H	456	.	.	P	-	2	0	ZZZ3	77870261	1.000000	0.71417	0.681000	0.30009	0.182000	0.23217	2.836000	0.48183	2.884000	0.98904	0.655000	0.94253	CCC		0.393	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
CDC14A	8556	hgsc.bcm.edu	37	1	100964777	100964777	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:100964777C>A	ENST00000336454.3	+	15	2069	c.1714C>A	c.(1714-1716)Ctt>Att	p.L572I	CDC14A_ENST00000544534.1_Missense_Mutation_p.L572I|CDC14A_ENST00000542213.1_Missense_Mutation_p.L514I|CDC14A_ENST00000370125.2_3'UTR|CDC14A_ENST00000361544.6_Missense_Mutation_p.L572I	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	572					cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTACACCGGGCTTTCTTCTTC	0.587																																																	0			1											98.0	106.0	103.0					1																	100964777		2203	4300	6503	100737365	SO:0001583	missense	8556			AF000367	CCDS769.1, CCDS770.1, CCDS771.1	1p21	2013-01-17	2013-01-17		ENSG00000079335	ENSG00000079335		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	1718	protein-coding gene	gene with protein product		603504	"""CDC10 (cell division cycle 10, S. cerevisiae, homolog)"", ""CDC14 cell division cycle 14 homolog A (S. cerevisiae)"""			9367992, 10409437	Standard	NM_033312		Approved	Cdc14A1, Cdc14A2, cdc14	uc001dtf.2	Q9UNH5	OTTHUMG00000010987	ENST00000336454.3:c.1714C>A	1.37:g.100964777C>A	ENSP00000336739:p.Leu572Ile		100737365	A6MA65|B1AQ14|B1AQ15|O43171|O60727|O60728|Q52LH9|Q8IXX0	Missense_Mutation	SNP	ENST00000336454.3	37	CCDS769.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103076	0.76983	.	.	ENSG00000079335	ENST00000542213;ENST00000361544;ENST00000336454;ENST00000544534	T;T;T;T	0.13089	2.71;2.8;3.02;2.62	5.66	5.66	0.87406	.	0.082541	0.51477	D	0.000081	T	0.22003	0.0530	L	0.32530	0.975	0.43936	D	0.996594	D;D;D;D	0.71674	0.998;0.997;0.997;0.998	D;D;D;D	0.83275	0.996;0.978;0.978;0.996	T	0.01162	-1.1432	10	0.52906	T	0.07	-6.0E-4	20.1253	0.97977	0.0:1.0:0.0:0.0	.	514;572;572;572	F5H7B3;A6MA65;Q9UNH5;Q9UNH5-2	.;.;CC14A_HUMAN;.	I	514;572;572;572	ENSP00000442640:L514I;ENSP00000354916:L572I;ENSP00000336739:L572I;ENSP00000442543:L572I	ENSP00000336739:L572I	L	+	1	0	CDC14A	100737365	0.996000	0.38824	0.991000	0.47740	0.914000	0.54420	2.322000	0.43814	2.832000	0.97577	0.655000	0.94253	CTT		0.587	CDC14A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030220.1	NM_033312	
IVL	3713	hgsc.bcm.edu	37	1	152882800	152882800	+	Missense_Mutation	SNP	C	C	A	rs541736259		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:152882800C>A	ENST00000368764.3	+	2	591	c.527C>A	c.(526-528)cCg>cAg	p.P176Q	IVL_ENST00000392667.2_Missense_Mutation_p.P30Q			P07476	INVO_HUMAN	involucrin	176	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctgaagcacccggagcagcag	0.642																																																	0			1											19.0	21.0	20.0					1																	152882800		2203	4299	6502	151149424	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.527C>A	1.37:g.152882800C>A	ENSP00000357753:p.Pro176Gln		151149424	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	C	2.428	-0.331443	0.05314	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.11712	2.99;2.75	2.13	-4.25	0.03766	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.21309	0.054	B	0.20384	0.029	T	0.48068	-0.9067	9	0.11485	T	0.65	.	5.3469	0.16014	0.3244:0.5011:0.1746:0.0	.	176	P07476	INVO_HUMAN	Q	176;30	ENSP00000357753:P176Q;ENSP00000376435:P30Q	ENSP00000357753:P176Q	P	+	2	0	IVL	151149424	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.509000	0.02264	-0.815000	0.04346	0.436000	0.28706	CCG		0.642	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
KCNH1	3756	hgsc.bcm.edu	37	1	210948826	210948826	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:210948826G>T	ENST00000271751.4	-	10	2003	c.1976C>A	c.(1975-1977)gCc>gAc	p.A659D	KCNH1_ENST00000367007.4_Missense_Mutation_p.A632D			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	659					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.A659D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCTAACATTGGCACAGGACTG	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)	1											150.0	118.0	129.0					1																	210948826		2203	4300	6503	209015449	SO:0001583	missense	3756			AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1976C>A	1.37:g.210948826G>T	ENSP00000271751:p.Ala659Asp		209015449	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722640	0.89298	.	.	ENSG00000143473	ENST00000271751;ENST00000367007	D;D	0.94793	-3.52;-3.52	5.47	5.47	0.80525	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.98030	0.9351	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.98834	1.0752	10	0.87932	D	0	.	19.3371	0.94324	0.0:0.0:1.0:0.0	.	632;659	Q14CL3;O95259	.;KCNH1_HUMAN	D	659;632	ENSP00000271751:A659D;ENSP00000355974:A632D	ENSP00000271751:A659D	A	-	2	0	KCNH1	209015449	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	9.507000	0.97996	2.567000	0.86603	0.561000	0.74099	GCC		0.522	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
KIAA1804	84451	hgsc.bcm.edu	37	1	233507792	233507792	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:233507792C>G	ENST00000366624.3	+	6	1822	c.1561C>G	c.(1561-1563)Cac>Gac	p.H521D	MLK4_ENST00000366623.3_Missense_Mutation_p.H521D	NM_032435.2	NP_115811.2																					AGATTTCCAGCACAAGATAAC	0.483																																																	0			1											88.0	89.0	89.0					1																	233507792		2203	4300	6503	231574415	SO:0001583	missense	84451																														ENST00000366624.3:c.1561C>G	1.37:g.233507792C>G	ENSP00000355583:p.His521Asp		231574415		Missense_Mutation	SNP	ENST00000366624.3	37	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791272	0.90367	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.79033	-0.89;-1.23	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.88819	0.6540	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.993	D	0.90043	0.4143	10	0.87932	D	0	.	18.7231	0.91703	0.0:1.0:0.0:0.0	.	521;521	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	D	521	ENSP00000355582:H521D;ENSP00000355583:H521D	ENSP00000355582:H521D	H	+	1	0	RP5-862P8.2	231574415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.635000	0.83286	2.654000	0.90174	0.650000	0.86243	CAC		0.483	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1		
ADSS	159	hgsc.bcm.edu	37	1	244587358	244587358	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:244587358C>T	ENST00000366535.3	-	6	794	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase											endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			TTTGTTGTACCCAAACTTAAA	0.408																																																	0			1											47.0	46.0	46.0					1																	244587358		2203	4300	6503	242653981	SO:0001583	missense	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.478G>A	1.37:g.244587358C>T	ENSP00000355493:p.Gly160Ser		242653981		Missense_Mutation	SNP	ENST00000366535.3	37	CCDS1624.1	.	.	.	.	.	.	.	.	.	.	C	35	5.443181	0.96187	.	.	ENSG00000035687	ENST00000366535;ENST00000449326	D	0.83837	-1.77	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.94703	0.8291	H	0.97896	4.1	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	D	0.96805	0.9592	10	0.87932	D	0	-14.8099	18.5791	0.91165	0.0:1.0:0.0:0.0	.	160	P30520	PURA2_HUMAN	S	160;139	ENSP00000355493:G160S	ENSP00000355493:G160S	G	-	1	0	ADSS	242653981	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.625000	0.83145	2.393000	0.81446	0.467000	0.42956	GGT		0.408	ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126	
OR2M4	26245	hgsc.bcm.edu	37	1	248402332	248402332	+	Silent	SNP	C	C	A	rs375886519		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:248402332C>A	ENST00000306687.1	+	1	102	c.102C>A	c.(100-102)atC>atA	p.I34I		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	34					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I34I(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCCTGGGCATCTTCTCACTGG	0.483																																																	1	Substitution - coding silent(1)	breast(1)	1											154.0	153.0	154.0					1																	248402332		2203	4300	6503	246468955	SO:0001819	synonymous_variant	26245			X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.102C>A	1.37:g.248402332C>A			246468955	Q15611|Q8NG82	Silent	SNP	ENST00000306687.1	37	CCDS31108.1																																																																																				0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504	
IFITM3	10410	hgsc.bcm.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs199749095	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632																																																	3	Substitution - Missense(3)	endometrium(2)|central_nervous_system(1)	11											89.0	95.0	93.0					11																	320606		2101	4210	6311	310606	SO:0001583	missense	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.208C>A	11.37:g.320606G>T	ENSP00000382707:p.Pro70Thr		310606	Q53Y76|Q96HK8|Q96J15	Missense_Mutation	SNP	ENST00000399808.4	37	CCDS41585.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|G	0.076|0.076	-1.193620|-1.193620	0.01594|0.01594	.|.	.|.	ENSG00000142089|ENSG00000142089	ENST00000270031|ENST00000399808;ENST00000526811	.|T;T	.|0.78595	.|-0.94;-1.19	4.65|4.65	-9.3|-9.3	0.00649|0.00649	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54447	.|0.1859	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	0.999999|0.999999	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	.|T	.|0.32375	.|-0.9909	.|9	.|0.22109	.|T	.|0.4	.|.	2.5632|2.5632	0.04777|0.04777	0.1587:0.0951:0.2785:0.4676|0.1587:0.0951:0.2785:0.4676	.|.	.|70	.|Q01628	.|IFM3_HUMAN	.|T	-1|70;49	.|ENSP00000382707:P70T;ENSP00000432108:P49T	.|ENSP00000382707:P70T	.|P	-|-	.|1	.|0	IFITM3|IFITM3	310606|310606	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.022000|0.022000	0.10575|0.10575	-1.460000|-1.460000	0.02368|0.02368	-3.272000|-3.272000	0.00199|0.00199	-2.532000|-2.532000	0.00182|0.00182	.|CCC		0.632	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
PIK3C2A	5286	hgsc.bcm.edu	37	11	17126781	17126781	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:17126781A>G	ENST00000265970.7	-	22	3615	c.3616T>C	c.(3616-3618)Ttt>Ctt	p.F1206L	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.F826L	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1206	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)	p.F1206L(1)		central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						TTATCTTTAAAGGATCCTGTC	0.383																																																	1	Substitution - Missense(1)	central_nervous_system(1)	11											104.0	99.0	101.0					11																	17126781		2200	4293	6493	17083357	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.3616T>C	11.37:g.17126781A>G	ENSP00000265970:p.Phe1206Leu		17083357	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	ENST00000265970.7	37	CCDS7824.1	.	.	.	.	.	.	.	.	.	.	A	35	5.430685	0.96150	.	.	ENSG00000011405	ENST00000265970;ENST00000540361	T;T	0.80566	-1.39;-1.39	5.64	5.64	0.86602	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.87410	0.6170	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.86555	0.1837	10	0.38643	T	0.18	-20.0574	15.8745	0.79151	1.0:0.0:0.0:0.0	.	1206	O00443	P3C2A_HUMAN	L	1206;826	ENSP00000265970:F1206L;ENSP00000438687:F826L	ENSP00000265970:F1206L	F	-	1	0	PIK3C2A	17083357	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.201000	0.95017	2.151000	0.67156	0.459000	0.35465	TTT		0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387553.1	NM_002645	
SAA2	6289	hgsc.bcm.edu	37	11	18267550	18267550	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:18267550T>G	ENST00000526900.1	-	3	320	c.137A>C	c.(136-138)aAt>aCt	p.N46T	SAA2_ENST00000528349.1_Missense_Mutation_p.N46T|SAA2_ENST00000256733.4_Missense_Mutation_p.N46T|SAA2_ENST00000529528.1_Missense_Mutation_p.N46T|SAA2_ENST00000414546.2_Missense_Mutation_p.N46T|SAA2-SAA4_ENST00000524555.1_RNA|RNA5SP333_ENST00000363466.1_RNA|SAA2_ENST00000530400.1_Missense_Mutation_p.N46T			P0DJI9	SAA2_HUMAN	serum amyloid A2	46					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)				central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCGATGTAATTGGCTTCTCT	0.522																																																	0			11											79.0	70.0	73.0					11																	18267550		2198	4273	6471	18224126	SO:0001583	missense	0			M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.137A>C	11.37:g.18267550T>G	ENSP00000436126:p.Asn46Thr		18224126	G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	T	18.39	3.614270	0.66672	.	.	ENSG00000134339	ENST00000414546;ENST00000530400;ENST00000528349;ENST00000256733;ENST00000529528;ENST00000526900	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.19	4.06	0.47325	.	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	.	.	.	0.36758	D	0.883159	D;D	0.60160	0.967;0.987	P;D	0.64506	0.676;0.926	T	0.44159	-0.9346	9	0.87932	D	0	.	9.2133	0.37331	0.0:0.0829:0.0:0.9171	.	46;46	G3XAK9;E9PR14	.;.	T	46	ENSP00000416716:N46T;ENSP00000432370:N46T;ENSP00000435659:N46T;ENSP00000256733:N46T;ENSP00000437162:N46T;ENSP00000436126:N46T	ENSP00000256733:N46T	N	-	2	0	SAA2	18224126	0.999000	0.42202	0.664000	0.29753	0.905000	0.53344	3.371000	0.52379	0.937000	0.37394	0.528000	0.53228	AAT		0.522	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754	
HPS5	11234	hgsc.bcm.edu	37	11	18305412	18305412	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:18305412C>T	ENST00000349215.3	-	21	3265	c.2988G>A	c.(2986-2988)ctG>ctA	p.L996L	HPS5_ENST00000438420.2_Silent_p.L882L|HPS5_ENST00000396253.3_Silent_p.L882L|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000537258.1_Silent_p.L103L	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	996					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TTCTTCTCTCCAGCTCCAAAC	0.423									Hermansky-Pudlak syndrome																																								0			11											128.0	124.0	125.0					11																	18305412		2199	4293	6492	18261988	SO:0001819	synonymous_variant	11234	Familial Cancer Database	HPS, HPS1-8	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2988G>A	11.37:g.18305412C>T			18261988	A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	CCDS7836.1																																																																																				0.423	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	
OR4C12	283093	hgsc.bcm.edu	37	11	50003744	50003744	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:50003744T>A	ENST00000335238.4	-	1	327	c.294A>T	c.(292-294)caA>caT	p.Q98H		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CTGCATAGGCTTGAGCCATAC	0.423																																																	0			11											129.0	128.0	128.0					11																	50003744		2201	4296	6497	49960320	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.294A>T	11.37:g.50003744T>A	ENSP00000334418:p.Gln98His		49960320	B2RNF0|Q6IF49	Missense_Mutation	SNP	ENST00000335238.4	37	CCDS31496.1	.	.	.	.	.	.	.	.	.	.	.	15.42	2.828055	0.50845	.	.	ENSG00000221954	ENST00000335238	T	0.00472	7.19	3.31	-0.498	0.12019	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	U	0.001169	T	0.02047	0.0064	H	0.98238	4.18	0.28323	N	0.922133	D	0.89917	1.0	D	0.91635	0.999	T	0.16928	-1.0386	10	0.87932	D	0	.	6.6433	0.22921	0.0:0.3485:0.0:0.6514	.	98	Q96R67	OR4CC_HUMAN	H	98	ENSP00000334418:Q98H	ENSP00000334418:Q98H	Q	-	3	2	OR4C12	49960320	0.002000	0.14202	0.922000	0.36590	0.937000	0.57800	-0.409000	0.07160	-0.194000	0.10399	-0.564000	0.04169	CAA		0.423	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391104.1	NM_001005270	
OR8K1	390157	hgsc.bcm.edu	37	11	56114150	56114150	+	Missense_Mutation	SNP	T	T	A	rs377093588		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:56114150T>A	ENST00000279783.2	+	1	730	c.636T>A	c.(634-636)aaT>aaA	p.N212K		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CAGGCTGTAATTTGCTCTTCT	0.373										HNSCC(65;0.19)																																							0			11											116.0	111.0	113.0					11																	56114150		2201	4296	6497	55870726	SO:0001583	missense	390157			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.636T>A	11.37:g.56114150T>A	ENSP00000279783:p.Asn212Lys		55870726	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.501228	0.44455	.	.	ENSG00000150261	ENST00000279783	T	0.00099	8.73	5.0	1.39	0.22231	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000071	T	0.00384	0.0012	M	0.88906	2.99	0.25203	N	0.990036	D	0.54964	0.969	P	0.58130	0.833	T	0.35724	-0.9777	10	0.87932	D	0	-18.9539	6.9012	0.24283	0.0:0.3186:0.0:0.6814	.	212	Q8NGG5	OR8K1_HUMAN	K	212	ENSP00000279783:N212K	ENSP00000279783:N212K	N	+	3	2	OR8K1	55870726	0.000000	0.05858	0.371000	0.25978	0.423000	0.31445	-1.713000	0.01883	0.244000	0.21351	0.448000	0.29417	AAT		0.373	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907	
PC	5091	hgsc.bcm.edu	37	11	66639505	66639505	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:66639505C>T	ENST00000393958.2	-	3	219	c.126G>A	c.(124-126)gtG>gtA	p.V42V	PC_ENST00000393955.2_Silent_p.V42V|PC_ENST00000524491.1_Silent_p.V2V|PC_ENST00000393960.1_Silent_p.V42V|PC_ENST00000355677.3_Silent_p.V42V	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	42	Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)	p.V42V(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTCTGTTGGCCACCATGACTT	0.657																																																	1	Substitution - coding silent(1)	ovary(1)	11											26.0	20.0	22.0					11																	66639505		2175	4268	6443	66396081	SO:0001819	synonymous_variant	5624			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.126G>A	11.37:g.66639505C>T			66396081	B4DN00|Q16705	Silent	SNP	ENST00000393958.2	37	CCDS8152.1																																																																																				0.657	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
UVRAG	7405	hgsc.bcm.edu	37	11	75590981	75590981	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:75590981T>C	ENST00000356136.3	+	4	570	c.329T>C	c.(328-330)gTg>gCg	p.V110A	UVRAG_ENST00000528420.1_Missense_Mutation_p.V9A	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	110	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GATACATCTGTGTCTTGTTTC	0.433																																																	0			11											277.0	262.0	267.0					11																	75590981		2200	4293	6493	75268629	SO:0001583	missense	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.329T>C	11.37:g.75590981T>C	ENSP00000348455:p.Val110Ala		75268629	B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	T	14.71	2.616580	0.46736	.	.	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T	0.45668	0.89	5.65	5.65	0.86999	C2 calcium-dependent membrane targeting (1);	0.054145	0.64402	D	0.000001	T	0.35913	0.0948	L	0.41236	1.265	0.80722	D	1	B	0.26935	0.164	B	0.26517	0.07	T	0.11251	-1.0595	10	0.28530	T	0.3	-12.7328	14.7229	0.69320	0.0:0.0:0.0:1.0	.	110	Q9P2Y5	UVRAG_HUMAN	A	110;9;9	ENSP00000348455:V110A	ENSP00000348455:V110A	V	+	2	0	UVRAG	75268629	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.890000	0.69774	2.163000	0.67991	0.533000	0.62120	GTG		0.433	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
BIRC3	330	hgsc.bcm.edu	37	11	102195608	102195608	+	Missense_Mutation	SNP	C	C	T	rs572690185		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:102195608C>T	ENST00000263464.3	+	2	3118	c.368C>T	c.(367-369)tCa>tTa	p.S123L	BIRC3_ENST00000532808.1_Missense_Mutation_p.S123L	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	123					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TCCACACACTCATTACTTCCG	0.408			T	MALT1	MALT																																			Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0			11											171.0	179.0	176.0					11																	102195608		2203	4299	6502	101700818	SO:0001583	missense	330			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.368C>T	11.37:g.102195608C>T	ENSP00000263464:p.Ser123Leu		101700818	Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	ENST00000263464.3	37	CCDS8315.1	.	.	.	.	.	.	.	.	.	.	C	3.937	-0.014949	0.07681	.	.	ENSG00000023445	ENST00000263464;ENST00000532808	T;T	0.21932	1.98;1.98	5.93	0.599	0.17519	.	0.417996	0.29046	N	0.013313	T	0.12944	0.0314	L	0.33485	1.01	0.09310	N	1	B	0.14012	0.009	B	0.15484	0.013	T	0.25047	-1.0143	10	0.25751	T	0.34	.	7.46	0.27289	0.0:0.6434:0.1113:0.2453	.	123	Q13489	BIRC3_HUMAN	L	123	ENSP00000263464:S123L;ENSP00000432907:S123L	ENSP00000263464:S123L	S	+	2	0	BIRC3	101700818	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	0.566000	0.23593	0.122000	0.18314	-0.229000	0.12294	TCA		0.408	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394159.1	NM_001165	
ATM	472	hgsc.bcm.edu	37	11	108236081	108236081	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:108236081C>T	ENST00000452508.2	+	64	9206	c.9017C>T	c.(9016-9018)gCt>gTt	p.A3006V	ATM_ENST00000525178.1_3'UTR|ATM_ENST00000278616.4_Missense_Mutation_p.A3006V|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	3006			A -> P (in T-prolymphocytic leukemia). {ECO:0000269|PubMed:9334731}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.A3006V(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AACAAAGTAGCTGAACGTGTC	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											123.0	120.0	121.0					11																	108236081		2201	4298	6499	107741291	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.9017C>T	11.37:g.108236081C>T	ENSP00000388058:p.Ala3006Val		107741291	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067499	0.93898	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	T;T	0.02579	4.24;4.24	5.22	5.22	0.72569	Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.108387	0.64402	D	0.000007	T	0.17577	0.0422	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.00096	-1.2074	10	0.66056	D	0.02	.	19.0354	0.92974	0.0:1.0:0.0:0.0	.	3006	Q13315	ATM_HUMAN	V	3006	ENSP00000278616:A3006V;ENSP00000388058:A3006V	ENSP00000278616:A3006V	A	+	2	0	ATM	107741291	1.000000	0.71417	1.000000	0.80357	0.719000	0.41307	7.458000	0.80787	2.726000	0.93360	0.650000	0.86243	GCT		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
VWA5A	4013	hgsc.bcm.edu	37	11	123989725	123989725	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:123989725T>C	ENST00000456829.2	+	7	940	c.689T>C	c.(688-690)cTc>cCc	p.L230P	VWA5A_ENST00000392748.1_Missense_Mutation_p.L230P|VWA5A_ENST00000360334.4_Missense_Mutation_p.L230P|VWA5A_ENST00000449321.1_Missense_Mutation_p.L230P|VWA5A_ENST00000392744.4_Missense_Mutation_p.L246P|VWA5A_ENST00000361352.5_Missense_Mutation_p.L230P	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	230										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GACGTGGAACTCCTGATTTAC	0.478																																																	0			11											149.0	118.0	129.0					11																	123989725		2201	4299	6500	123494935	SO:0001583	missense	4013			AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.689T>C	11.37:g.123989725T>C	ENSP00000407726:p.Leu230Pro		123494935	Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	T	19.84	3.901231	0.72754	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.45668	2.95;0.89;2.95;1.26;1.26;1.23	5.73	5.73	0.89815	.	0.118802	0.64402	D	0.000017	T	0.65852	0.2731	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.70898	-0.4747	10	0.87932	D	0	-25.85	13.9569	0.64155	0.0:0.0:0.0:1.0	.	246;230	B4DHS6;O00534	.;VMA5A_HUMAN	P	230;230;230;230;230;230;230;246	ENSP00000407726:L230P;ENSP00000353485:L230P;ENSP00000376504:L230P;ENSP00000355070:L230P;ENSP00000404683:L230P;ENSP00000376501:L246P	ENSP00000353485:L230P	L	+	2	0	VWA5A	123494935	1.000000	0.71417	0.988000	0.46212	0.485000	0.33311	6.625000	0.74248	2.183000	0.69458	0.528000	0.53228	CTC		0.478	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622	
RANBP9	10048	hgsc.bcm.edu	37	6	13625895	13625895	+	Silent	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:13625895A>G	ENST00000011619.3	-	13	2107	c.2049T>C	c.(2047-2049)agT>agC	p.S683S	RANBP9_ENST00000539980.1_Silent_p.S454S|NOL7_ENST00000474485.1_Intron|RANBP9_ENST00000469916.1_5'UTR	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	683	Interaction with FMR1.				axon guidance (GO:0007411)|microtubule nucleation (GO:0007020)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			CTAATATTGCACTGTTAAGAG	0.398																																																	0			6											187.0	185.0	186.0					6																	13625895		2203	4300	6503	13733874	SO:0001819	synonymous_variant	10048			AB008515	CCDS4529.1	6p23	2010-05-25			ENSG00000010017	ENSG00000010017			13727	protein-coding gene	gene with protein product	"""Ran Binding Protein in the Microtubule organizing center"""	603854				9817760	Standard	NM_005493		Approved	RanBPM	uc003nbb.3	Q96S59	OTTHUMG00000015642	ENST00000011619.3:c.2049T>C	6.37:g.13625895A>G			13733874	A0PJA2|B2R8E1|O94764|Q6P3T7|Q7LBR2|Q7Z7F9	Silent	SNP	ENST00000011619.3	37	CCDS4529.1																																																																																				0.398	RANBP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042373.1		
EHMT2	10919	hgsc.bcm.edu	37	6	31860203	31860203	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:31860203C>T	ENST00000375537.4	-	7	851	c.845G>A	c.(844-846)cGc>cAc	p.R282H	EHMT2_ENST00000375528.4_Missense_Mutation_p.R339H|EHMT2_ENST00000395728.3_Missense_Mutation_p.R339H|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.R282H	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	282					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)	p.R282H(1)		central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGAGTCCACGCGCTCATCCAC	0.622																																																	1	Substitution - Missense(1)	large_intestine(1)	6											89.0	69.0	76.0					6																	31860203		1511	2709	4220	31968182	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.845G>A	6.37:g.31860203C>T	ENSP00000364687:p.Arg282His		31968182	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	ENST00000375537.4	37	CCDS4725.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735648	0.49045	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.73258	-0.46;-0.73;-0.65;-0.45	4.97	4.97	0.65823	.	0.084955	0.46145	D	0.000320	T	0.31606	0.0802	N	0.08118	0	0.43448	D	0.995635	B;B;B;B	0.14438	0.006;0.01;0.006;0.003	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.31475	-0.9942	10	0.42905	T	0.14	.	7.3862	0.26884	0.0:0.8216:0.0:0.1784	.	339;282;282;96	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	H	339;339;282;282;96	ENSP00000379078:R339H;ENSP00000364678:R339H;ENSP00000364680:R282H;ENSP00000364687:R282H	ENSP00000364678:R339H	R	-	2	0	EHMT2	31968182	0.971000	0.33674	1.000000	0.80357	0.996000	0.88848	2.174000	0.42482	2.582000	0.87167	0.491000	0.48974	CGC		0.622	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709	
ITPR3	3710	hgsc.bcm.edu	37	6	33653286	33653286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:33653286G>T	ENST00000374316.5	+	41	6518	c.5458G>T	c.(5458-5460)Gag>Tag	p.E1820*	ITPR3_ENST00000605930.1_Nonsense_Mutation_p.E1820*			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1820					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E1820K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TGAGGACCGCGAGCCAGTCGA	0.647																																																	1	Substitution - Missense(1)	central_nervous_system(1)	6											26.0	29.0	28.0					6																	33653286		2203	4300	6503	33761264	SO:0001587	stop_gained	3710			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5458G>T	6.37:g.33653286G>T	ENSP00000363435:p.Glu1820*		33761264	Q14649|Q5TAQ2	Nonsense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	50	16.851350	0.99873	.	.	ENSG00000096433	ENST00000374316	.	.	.	5.03	5.03	0.67393	.	0.505055	0.22392	N	0.060672	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-34.6547	14.0224	0.64563	0.0:0.1514:0.8485:0.0	.	.	.	.	X	1820	.	ENSP00000363435:E1820X	E	+	1	0	ITPR3	33761264	1.000000	0.71417	0.306000	0.25113	0.056000	0.15407	7.200000	0.77838	2.337000	0.79520	0.313000	0.20887	GAG		0.647	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
PHIP	55023	hgsc.bcm.edu	37	6	79650763	79650763	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:79650763A>C	ENST00000275034.4	-	40	5280	c.5113T>G	c.(5113-5115)Ttg>Gtg	p.L1705V	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1705					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTCTGTAACAAATCTTCCTTT	0.363																																																	0			6											136.0	129.0	132.0					6																	79650763		2202	4300	6502	79707482	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5113T>G	6.37:g.79650763A>C	ENSP00000275034:p.Leu1705Val		79707482	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	A	3.425	-0.117415	0.06838	.	.	ENSG00000146247	ENST00000275034	T	0.39056	1.1	6.07	3.62	0.41486	.	0.400866	0.24426	N	0.038640	T	0.09291	0.0229	N	0.19112	0.55	0.30983	N	0.722254	B;B	0.20261	0.043;0.043	B;B	0.16722	0.016;0.016	T	0.26849	-1.0091	9	.	.	.	-3.2622	6.45	0.21898	0.7885:0.0:0.0732:0.1382	.	1705;1705	A7J992;Q8WWQ0	.;PHIP_HUMAN	V	1705	ENSP00000275034:L1705V	.	L	-	1	2	PHIP	79707482	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.378000	0.34328	0.502000	0.28037	0.528000	0.53228	TTG		0.363	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
PHIP	55023	hgsc.bcm.edu	37	6	79655100	79655100	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:79655100T>C	ENST00000275034.4	-	39	4912	c.4745A>G	c.(4744-4746)gAa>gGa	p.E1582G	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1582					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GACTGGCTTTTCCTTTTCCAT	0.393																																																	0			6											224.0	210.0	214.0					6																	79655100		2203	4300	6503	79711819	SO:0001583	missense	55023			AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4745A>G	6.37:g.79655100T>C	ENSP00000275034:p.Glu1582Gly		79711819	A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.723865	0.48728	.	.	ENSG00000146247	ENST00000275034;ENST00000355098	T	0.41400	1.0	5.86	5.86	0.93980	.	0.064498	0.64402	D	0.000006	T	0.21718	0.0523	N	0.24115	0.695	0.47737	D	0.9995	P;P	0.47762	0.9;0.9	P;P	0.44518	0.452;0.452	T	0.02505	-1.1149	9	.	.	.	-24.1443	15.4264	0.75055	0.0:0.0:0.0:1.0	.	1582;1582	A7J992;Q8WWQ0	.;PHIP_HUMAN	G	1582;308	ENSP00000275034:E1582G	.	E	-	2	0	PHIP	79711819	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.776000	0.55356	2.241000	0.73720	0.533000	0.62120	GAA		0.393	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2		
FAM184A	79632	hgsc.bcm.edu	37	6	119324732	119324732	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:119324732T>C	ENST00000338891.7	-	8	2314	c.1871A>G	c.(1870-1872)gAa>gGa	p.E624G	FAM184A_ENST00000352896.5_Missense_Mutation_p.E504G|FAM184A_ENST00000368475.4_Missense_Mutation_p.E504G|FAM184A_ENST00000521531.1_Missense_Mutation_p.E624G|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	624						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						CTTCTCTTCTTCTTTCATGGC	0.333																																																	0			6											102.0	94.0	97.0					6																	119324732		1829	4088	5917	119366431	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1871A>G	6.37:g.119324732T>C	ENSP00000342604:p.Glu624Gly		119366431	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.085133	0.36758	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.35048	1.33;1.33;1.33;1.33	6.07	3.69	0.42338	.	0.159662	0.53938	D	0.000053	T	0.15565	0.0375	L	0.51422	1.61	0.80722	D	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.03608	-1.1020	10	0.31617	T	0.26	-13.5885	10.4991	0.44796	0.0:0.1302:0.0:0.8698	.	624;504;624	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	G	624;504;504;624	ENSP00000342604:E624G;ENSP00000326608:E504G;ENSP00000357460:E504G;ENSP00000430442:E624G	ENSP00000342604:E624G	E	-	2	0	FAM184A	119366431	1.000000	0.71417	0.955000	0.39395	0.404000	0.30871	2.228000	0.42981	0.544000	0.28883	0.528000	0.53228	GAA		0.333	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
TBC1D32	221322	hgsc.bcm.edu	37	6	121638681	121638681	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:121638681C>T	ENST00000398212.2	-	3	504	c.455G>A	c.(454-456)cGc>cAc	p.R152H	TBC1D32_ENST00000275159.6_Missense_Mutation_p.R152H	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	152					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)	p.R152H(2)									ATTGTCTGTGCGGTAACTATG	0.348																																																	2	Substitution - Missense(2)	breast(2)	6											312.0	282.0	292.0					6																	121638681		1866	4095	5961	121680380	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.455G>A	6.37:g.121638681C>T	ENSP00000381270:p.Arg152His		121680380	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	37	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	C	8.651	0.898258	0.17686	.	.	ENSG00000146350	ENST00000275159;ENST00000398212;ENST00000422369	T;T;T	0.16897	2.31;2.31;2.31	5.02	5.02	0.67125	.	0.166640	0.45606	D	0.000354	T	0.02533	0.0077	N	0.14661	0.345	0.19945	N	0.999944	B	0.33694	0.421	B	0.29524	0.103	T	0.34750	-0.9816	10	0.15066	T	0.55	-3.4063	6.8367	0.23941	0.0:0.7818:0.0:0.2182	.	152	Q96NH3	BROMI_HUMAN	H	152	ENSP00000275159:R152H;ENSP00000381270:R152H;ENSP00000397993:R152H	ENSP00000275159:R152H	R	-	2	0	C6orf170	121680380	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	3.044000	0.49830	2.485000	0.83878	0.655000	0.94253	CGC		0.348	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
VNN1	8876	hgsc.bcm.edu	37	6	133004392	133004392	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:133004392C>T	ENST00000367928.4	-	7	1442	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	477					acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159)			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TACAACCTCCCAAACAGAGTT	0.423																																																	0			6											129.0	118.0	122.0					6																	133004392		2203	4300	6503	133046085	SO:0001583	missense	8876			AJ132099	CCDS5159.1	6q23-q24	2013-02-13			ENSG00000112299	ENSG00000112299	3.5.1.92	"""Vanins"""	12705	protein-coding gene	gene with protein product		603570				9790769	Standard	NM_004666		Approved	Tiff66	uc003qdo.3	O95497	OTTHUMG00000015587	ENST00000367928.4:c.1429G>A	6.37:g.133004392C>T	ENSP00000356905:p.Gly477Arg		133046085	A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4	Missense_Mutation	SNP	ENST00000367928.4	37	CCDS5159.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.993621	0.93167	.	.	ENSG00000112299	ENST00000367928	D	0.92495	-3.05	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.96197	0.8760	M	0.81341	2.54	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.95961	0.8962	10	0.87932	D	0	-28.9056	20.1823	0.98208	0.0:1.0:0.0:0.0	.	477	O95497	VNN1_HUMAN	R	477	ENSP00000356905:G477R	ENSP00000356905:G477R	G	-	1	0	VNN1	133046085	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.856000	0.62932	2.771000	0.95319	0.650000	0.86243	GGG		0.423	VNN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042263.1		
POLR2A	5430	hgsc.bcm.edu	37	17	7399374	7399374	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:7399374C>T	ENST00000322644.6	+	2	607	c.208C>T	c.(208-210)Cgc>Tgc	p.R70C	POLR2A_ENST00000572844.1_Missense_Mutation_p.R70C	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	70					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCGGACTGGCCGCTGCCAAAC	0.632																																																	0			17											32.0	37.0	35.0					17																	7399374		2199	4296	6495	7340098	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.208C>T	17.37:g.7399374C>T	ENSP00000314949:p.Arg70Cys		7340098	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	ENST00000322644.6	37	CCDS32548.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.662662	0.47572	.	.	ENSG00000181222	ENST00000322644	T	0.68181	-0.31	5.33	5.33	0.75918	RNA polymerase Rpb1, domain 1 (1);	0.000000	0.85682	D	0.000000	T	0.73048	0.3537	M	0.92317	3.295	0.80722	D	1	B;B	0.33964	0.434;0.154	B;B	0.31614	0.133;0.12	T	0.78398	-0.2219	10	0.72032	D	0.01	.	12.8388	0.57788	0.1634:0.8365:0.0:0.0	.	70;70	P24928;Q6NX41	RPB1_HUMAN;.	C	70	ENSP00000314949:R70C	ENSP00000314949:R70C	R	+	1	0	SLC35G6	7340098	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.468000	0.60162	2.499000	0.84300	0.467000	0.42956	CGC		0.632	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437967.1	NM_000937	
TP53	7157	hgsc.bcm.edu	37	17	7579329	7579329	+	Missense_Mutation	SNP	T	T	C	rs121912658		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:7579329T>C	ENST00000269305.4	-	4	547	c.358A>G	c.(358-360)Aag>Gag	p.K120E	TP53_ENST00000413465.2_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000420246.2_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E|TP53_ENST00000445888.2_Missense_Mutation_p.K120E|TP53_ENST00000574684.1_5'Flank	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	120	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*3(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)	GTCACAGACTTGGCTGTCCCA	0.562		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"""	26	Deletion - Frameshift(10)|Whole gene deletion(8)|Substitution - Missense(4)|Deletion - In frame(2)|Substitution - Nonsense(2)	upper_aerodigestive_tract(5)|lung(4)|bone(4)|breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|stomach(1)|liver(1)|ovary(1)	17	GRCh37	CM921039	TP53	M	rs121912658						66.0	61.0	63.0					17																	7579329		2203	4300	6503	7520054	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.358A>G	17.37:g.7579329T>C	ENSP00000269305:p.Lys120Glu		7520054	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.565227	0.86439	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99854	-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19;-7.19	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.90759	3.145	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.993;1.0;0.999;0.999	D;D;D;D;D;D;D	0.97110	0.995;0.998;1.0;0.979;1.0;1.0;0.993	D	0.96452	0.9335	10	0.87932	D	0	-37.4061	12.5363	0.56144	0.0:0.0:0.0:1.0	.	81;120;120;120;120;120;120	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	E	120	ENSP00000410739:K120E;ENSP00000352610:K120E;ENSP00000269305:K120E;ENSP00000398846:K120E;ENSP00000391127:K120E;ENSP00000391478:K120E;ENSP00000424104:K120E;ENSP00000426252:K120E	ENSP00000269305:K120E	K	-	1	0	TP53	7520054	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.383000	0.73172	2.125000	0.65367	0.533000	0.62120	AAG		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
PIGS	94005	hgsc.bcm.edu	37	17	26897872	26897872	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:26897872T>C	ENST00000308360.7	-	3	659	c.284A>G	c.(283-285)aAa>aGa	p.K95R	RP11-192H23.5_ENST00000585189.1_RNA|PIGS_ENST00000395346.2_Missense_Mutation_p.K87R|PIGS_ENST00000543734.1_Missense_Mutation_p.K34R	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	95					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TAACTCACATTTCAGAGGAAT	0.542																																																	0			17											88.0	84.0	85.0					17																	26897872		2203	4300	6503	23921999	SO:0001583	missense	94005				CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.284A>G	17.37:g.26897872T>C	ENSP00000309430:p.Lys95Arg		23921999	Q6UVX6	Missense_Mutation	SNP	ENST00000308360.7	37	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480988	0.63849	.	.	ENSG00000087111	ENST00000395346;ENST00000308360;ENST00000543734	T;T;T	0.46063	0.89;0.89;0.88	4.64	4.64	0.57946	.	0.209983	0.48767	D	0.000171	T	0.36963	0.0986	L	0.44542	1.39	0.53005	D	0.999962	P;P	0.44521	0.837;0.804	P;B	0.45794	0.493;0.292	T	0.08659	-1.0711	10	0.23302	T	0.38	-0.5764	8.7337	0.34514	0.0:0.0927:0.0:0.9073	.	95;87	Q96S52;Q96S52-2	PIGS_HUMAN;.	R	87;95;34	ENSP00000378755:K87R;ENSP00000309430:K95R;ENSP00000438447:K34R	ENSP00000309430:K95R	K	-	2	0	PIGS	23921999	1.000000	0.71417	1.000000	0.80357	0.663000	0.39108	6.172000	0.71932	1.860000	0.53959	0.254000	0.18369	AAA		0.542	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198	
FNDC8	54752	hgsc.bcm.edu	37	17	33454242	33454242	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:33454242G>A	ENST00000158009.5	+	2	506	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K		NM_017559.2	NP_060029.1	Q8TC99	FNDC8_HUMAN	fibronectin type III domain containing 8	131						nucleus (GO:0005634)				breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	11		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.022)		CAAGAATGCAGAAAATGAGGA	0.577																																																	0			17											121.0	127.0	125.0					17																	33454242		2203	4300	6503	30478355	SO:0001583	missense	54752			BC024002	CCDS11290.1	17q12	2013-02-11			ENSG00000073598	ENSG00000073598		"""Fibronectin type III domain containing"""	25286	protein-coding gene	gene with protein product						12477932	Standard	XM_005257993		Approved	DKFZp434H2215	uc002hix.3	Q8TC99	OTTHUMG00000132932	ENST00000158009.5:c.391G>A	17.37:g.33454242G>A	ENSP00000158009:p.Glu131Lys		30478355	B2R9G6|Q9UFC2	Missense_Mutation	SNP	ENST00000158009.5	37	CCDS11290.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295366	0.23564	.	.	ENSG00000073598	ENST00000158009	T	0.34072	1.38	5.38	4.41	0.53225	.	0.540328	0.16991	N	0.191309	T	0.24928	0.0605	L	0.27053	0.805	0.09310	N	1	P	0.43094	0.799	B	0.35931	0.214	T	0.11397	-1.0589	10	0.72032	D	0.01	-1.028	12.065	0.53583	0.0:0.1725:0.8275:0.0	.	131	Q8TC99	FNDC8_HUMAN	K	131	ENSP00000158009:E131K	ENSP00000158009:E131K	E	+	1	0	FNDC8	30478355	0.381000	0.25140	0.167000	0.22817	0.033000	0.12548	2.701000	0.47094	1.485000	0.48380	0.655000	0.94253	GAA		0.577	FNDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256459.2	NM_017559	
ASB16	92591	hgsc.bcm.edu	37	17	42255595	42255595	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:42255595C>T	ENST00000293414.1	+	5	1283	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000592897.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	400	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TTCTACAGCTCGGCCCTGTGC	0.657																																																	0			17											48.0	39.0	42.0					17																	42255595		2203	4300	6503	39611121	SO:0001583	missense	92591			AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1199C>T	17.37:g.42255595C>T	ENSP00000293414:p.Ser400Leu		39611121	B2RBC0|Q8WXK0	Missense_Mutation	SNP	ENST00000293414.1	37	CCDS11478.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.603460	0.66445	.	.	ENSG00000161664	ENST00000293414	T	0.65549	-0.16	5.27	5.27	0.74061	.	0.394804	0.25189	N	0.032474	T	0.52256	0.1723	L	0.49571	1.57	0.39008	D	0.959482	P	0.43231	0.801	B	0.24701	0.055	T	0.64597	-0.6370	10	0.59425	D	0.04	-12.9981	17.8117	0.88619	0.0:1.0:0.0:0.0	.	400	Q96NS5	ASB16_HUMAN	L	400	ENSP00000293414:S400L	ENSP00000293414:S400L	S	+	2	0	ASB16	39611121	0.992000	0.36948	0.963000	0.40424	0.625000	0.37756	4.259000	0.58828	2.736000	0.93811	0.561000	0.74099	TCG		0.657	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457703.1		
ALYREF	10189	hgsc.bcm.edu	37	17	79846185	79846185	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:79846185C>T	ENST00000331204.4	-	5	717	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	ALYREF_ENST00000512673.1_5'Flank|ALYREF_ENST00000505490.2_Missense_Mutation_p.G238S|ANAPC11_ENST00000571570.1_5'Flank	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	231	Ala/Arg/Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|replication fork processing (GO:0031297)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral mRNA export from host cell nucleus (GO:0046784)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|transcription export complex (GO:0000346)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)										GAATTCCTGCCGGCACCTCTG	0.652																																																	0			17											27.0	29.0	29.0					17																	79846185		2203	4300	6503	77439481	SO:0001583	missense	10189			AF047002	CCDS32768.1, CCDS32768.2	17q25.3	2013-02-12	2011-12-12	2011-12-12	ENSG00000183684	ENSG00000183684		"""THO complex subunits"", ""RNA binding motif (RRM) containing"""	19071	protein-coding gene	gene with protein product		604171	"""THO complex 4"""	THOC4		11032328	Standard	NM_005782		Approved	ALY, BEF, ALY/REF, REF	uc002kbu.2	Q86V81	OTTHUMG00000160470	ENST00000331204.4:c.691G>A	17.37:g.79846185C>T	ENSP00000331817:p.Gly231Ser		77439481	O43672	Missense_Mutation	SNP	ENST00000331204.4	37		.	.	.	.	.	.	.	.	.	.	C	15.48	2.844941	0.51164	.	.	ENSG00000183684	ENST00000331204;ENST00000505490	D;D	0.92299	-3.01;-3.01	5.43	4.47	0.54385	.	0.059051	0.64402	D	0.000002	D	0.88966	0.6581	L	0.37850	1.14	0.46011	D	0.998816	D	0.55172	0.97	P	0.48400	0.576	D	0.86076	0.1541	10	0.11182	T	0.66	.	14.3803	0.66907	0.0:0.9292:0.0:0.0708	.	238	E9PB61	.	S	231;238	ENSP00000331817:G231S;ENSP00000421592:G238S	ENSP00000331817:G231S	G	-	1	0	THOC4	77439481	1.000000	0.71417	0.924000	0.36721	0.463000	0.32649	3.362000	0.52314	1.539000	0.49286	0.655000	0.94253	GGC		0.652	ALYREF-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005782	
SAMSN1	64092	hgsc.bcm.edu	37	21	15889220	15889220	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr21:15889220T>C	ENST00000400566.1	-	3	353	c.272A>G	c.(271-273)gAg>gGg	p.E91G	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.E159G	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	91					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TACCTTTTCCTCAGAAAGGGC	0.313																																																	0			21											95.0	84.0	87.0					21																	15889220		1793	4062	5855	14811091	SO:0001583	missense	64092			AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.272A>G	21.37:g.15889220T>C	ENSP00000383411:p.Glu91Gly		14811091	B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	T	22.6	4.317443	0.81469	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.61392	0.11;0.11	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.78666	0.4319	M	0.87682	2.9	0.58432	D	0.999997	D;D	0.71674	0.997;0.998	D;D	0.71656	0.913;0.974	T	0.83172	-0.0093	10	0.87932	D	0	-29.7102	15.3481	0.74359	0.0:0.0:0.0:1.0	.	159;91	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	G	159;91	ENSP00000285670:E159G;ENSP00000383411:E91G	ENSP00000285670:E159G	E	-	2	0	SAMSN1	14811091	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.637000	0.74304	2.033000	0.60031	0.533000	0.62120	GAG		0.313	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		
EVA1C	59271	hgsc.bcm.edu	37	21	33887402	33887402	+	Missense_Mutation	SNP	G	G	A	rs146340457		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr21:33887402G>A	ENST00000300255.2	+	8	1701	c.1228G>A	c.(1228-1230)Gca>Aca	p.A410T	EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Missense_Mutation_p.A362T|EVA1C_ENST00000382699.3_Missense_Mutation_p.A407T	NM_058187.3	NP_478067.2	P58658	EVA1C_HUMAN	eva-1 homolog C (C. elegans)	410						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TGCAGAGCTCGCAGAAAGGAT	0.493																																																	0			21						G	THR/ALA	0,4406		0,0,2203	101.0	111.0	107.0		1228	5.9	1.0	21	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	C21orf63	NM_058187.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	410/442	33887402	1,13005	2203	4300	6503	32809273	SO:0001583	missense	59271			AF358258	CCDS13614.1, CCDS68186.1	21q22.11	2012-11-05	2012-11-05	2012-11-05	ENSG00000166979	ENSG00000166979			13239	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 64"", ""chromosome 21 open reading frame 63"", ""family with sequence similarity 176, member C"""	C21orf64, C21orf63, FAM176C		11707072, 19470522	Standard	NM_058187		Approved	B18, PRED34, B19	uc002ypr.1	P58658	OTTHUMG00000064922	ENST00000300255.2:c.1228G>A	21.37:g.33887402G>A	ENSP00000300255:p.Ala410Thr		32809273	A6ND58|Q8IXZ0	Missense_Mutation	SNP	ENST00000300255.2	37	CCDS13614.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525646	0.96431	0.0	1.16E-4	ENSG00000166979	ENST00000300255;ENST00000401402;ENST00000382699	T;T;T	0.61980	0.06;0.06;0.06	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83445	0.5256	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.83593	0.0124	10	0.46703	T	0.11	-17.5624	20.2963	0.98556	0.0:0.0:1.0:0.0	.	407;410	A6ND58;P58658	.;CU063_HUMAN	T	410;362;407	ENSP00000300255:A410T;ENSP00000384594:A362T;ENSP00000372146:A407T	ENSP00000300255:A410T	A	+	1	0	C21orf63	32809273	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	8.929000	0.92859	2.813000	0.96785	0.655000	0.94253	GCA		0.493	EVA1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139403.1	NM_058187	
COL6A2	1292	hgsc.bcm.edu	37	21	47545812	47545812	+	Nonsense_Mutation	SNP	G	G	T	rs377376395		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr21:47545812G>T	ENST00000300527.4	+	26	2187	c.2083G>T	c.(2083-2085)Gag>Tag	p.E695*	COL6A2_ENST00000357838.4_Nonsense_Mutation_p.E695*|COL6A2_ENST00000409416.1_Nonsense_Mutation_p.E695*|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.E695*|COL6A2_ENST00000310645.5_Nonsense_Mutation_p.E695*	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	695	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.E695Q(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAAGAACCTCGAGTGGATTGC	0.607																																																	1	Substitution - Missense(1)	ovary(1)	21											74.0	67.0	70.0					21																	47545812		2203	4300	6503	46370240	SO:0001587	stop_gained	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2083G>T	21.37:g.47545812G>T	ENSP00000300527:p.Glu695*		46370240	Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Nonsense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	G	36	5.659939	0.96734	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	.	.	.	4.21	4.21	0.49690	.	0.052830	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-24.9483	16.5536	0.84479	0.0:0.0:1.0:0.0	.	.	.	.	X	695	.	ENSP00000300527:E695X	E	+	1	0	COL6A2	46370240	1.000000	0.71417	0.994000	0.49952	0.776000	0.43924	7.742000	0.85008	1.889000	0.54706	0.491000	0.48974	GAG		0.607	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
MSLNL	401827	hgsc.bcm.edu	37	16	830433	830433	+	Intron	SNP	G	G	T	rs202228997		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr16:830433G>T	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_Missense_Mutation_p.R190S			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R190S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCACGGGTAGGTGAC	0.567																																																	1	Substitution - Missense(1)	ovary(1)	16											213.0	189.0	197.0					16																	830433		2178	4274	6452	770434	SO:0001627	intron_variant	401827					16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-271C>A	16.37:g.830433G>T			770434		Missense_Mutation	SNP	ENST00000442466.1	37		.	.	.	.	.	.	.	.	.	.	G	7.806	0.714594	0.15306	.	.	ENSG00000162006	ENST00000293892	T	0.18338	2.22	1.33	0.33	0.15929	.	.	.	.	.	T	0.10551	0.0258	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35351	-0.9792	5	.	.	.	.	3.4078	0.07347	0.2778:0.0:0.7222:0.0	.	.	.	.	S	190	ENSP00000293892:R190S	.	R	-	1	0	MSLNL	770434	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-4.195000	0.00276	0.125000	0.18397	0.411000	0.27672	CGT		0.567	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190	
MYH11	4629	hgsc.bcm.edu	37	16	15854404	15854404	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr16:15854404T>C	ENST00000300036.5	-	11	1350	c.1241A>G	c.(1240-1242)aAa>aGa	p.K414R	MYH11_ENST00000396324.3_Missense_Mutation_p.K421R|MYH11_ENST00000576790.2_Missense_Mutation_p.K414R|MYH11_ENST00000452625.2_Missense_Mutation_p.K421R	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	414	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TACCTGTTCTTTTGTCTGAGC	0.433			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0			16											435.0	337.0	370.0					16																	15854404		2197	4300	6497	15761905	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1241A>G	16.37:g.15854404T>C	ENSP00000300036:p.Lys414Arg		15761905	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.214305	0.58452	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	T	0.79429	0.4444	M	0.62016	1.91	0.80722	D	1	P;P;P;P;P;P	0.48640	0.645;0.913;0.913;0.913;0.913;0.913	P;P;P;P;P;P	0.58577	0.841;0.841;0.841;0.841;0.841;0.841	T	0.81324	-0.0984	10	0.62326	D	0.03	.	13.9242	0.63952	0.0:0.0:0.0:1.0	.	421;414;414;421;414;421	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	R	414;414;421;421;421	ENSP00000300036:K414R;ENSP00000345136:K414R;ENSP00000379616:K421R;ENSP00000407821:K421R	ENSP00000300036:K414R	K	-	2	0	MYH11	15761905	1.000000	0.71417	0.999000	0.59377	0.818000	0.46254	8.016000	0.88706	1.891000	0.54761	0.254000	0.18369	AAA		0.433	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
VWA3A	146177	hgsc.bcm.edu	37	16	22151533	22151533	+	Missense_Mutation	SNP	G	G	A	rs564353975		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr16:22151533G>A	ENST00000389398.5	+	23	2447	c.2351G>A	c.(2350-2352)cGt>cAt	p.R784H	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	784						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CTGAAATGGCGTCCACTCAGT	0.527													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0																0			16											53.0	52.0	53.0					16																	22151533		2008	4175	6183	22059034	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2351G>A	16.37:g.22151533G>A	ENSP00000374049:p.Arg784His		22059034	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684645	0.29872	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.15139	2.45	5.42	-4.28	0.03732	.	1.046580	0.07461	N	0.900632	T	0.10294	0.0252	L	0.28192	0.835	0.20196	N	0.999928	B	0.16396	0.017	B	0.06405	0.002	T	0.37150	-0.9718	10	0.31617	T	0.26	.	8.0116	0.30357	0.5036:0.1079:0.3884:0.0	.	784	A6NCI4	VWA3A_HUMAN	H	784;407	ENSP00000374049:R784H	ENSP00000299840:R407H	R	+	2	0	VWA3A	22059034	0.659000	0.27411	0.000000	0.03702	0.082000	0.17680	-0.238000	0.08977	-0.733000	0.04850	-0.140000	0.14226	CGT		0.527	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1		
MYLK3	91807	hgsc.bcm.edu	37	16	46755054	46755054	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr16:46755054C>T	ENST00000394809.4	-	9	2081	c.1966G>A	c.(1966-1968)Gac>Aac	p.D656N	MYLK3_ENST00000536476.1_Missense_Mutation_p.D315N	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCCCAAAGTCAATGATCTTA	0.458																																																	0			16											139.0	141.0	141.0					16																	46755054		2203	4300	6503	45312555	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.1966G>A	16.37:g.46755054C>T	ENSP00000378288:p.Asp656Asn		45312555	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	C	33	5.210759	0.95069	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	D;D	0.92965	-3.14;-3.14	5.09	5.09	0.68999	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	0.37857	N	0.001917	D	0.97996	0.9340	H	0.99074	4.42	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	D	0.99143	1.0856	10	0.56958	D	0.05	.	18.8594	0.92266	0.0:1.0:0.0:0.0	.	656	Q32MK0	MYLK3_HUMAN	N	656;315	ENSP00000378288:D656N;ENSP00000439297:D315N	ENSP00000378288:D656N	D	-	1	0	MYLK3	45312555	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.591000	0.82666	2.517000	0.84864	0.557000	0.71058	GAC		0.458	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2	NM_182493	
SPIRE2	84501	hgsc.bcm.edu	37	16	89920751	89920751	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr16:89920751G>T	ENST00000378247.3	+	4	746	c.703G>T	c.(703-705)Gac>Tac	p.D235Y	SPIRE2_ENST00000393062.2_Missense_Mutation_p.D235Y	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	235					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGCAGAGCTGGACAGCCTGGG	0.657																																																	0			16											43.0	38.0	40.0					16																	89920751		2188	4290	6478	88448252	SO:0001583	missense	84501			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.703G>T	16.37:g.89920751G>T	ENSP00000367494:p.Asp235Tyr		88448252	A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118248	0.37339	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.51071	0.72;0.72	5.67	4.61	0.57282	.	0.146294	0.64402	D	0.000009	T	0.66819	0.2828	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.993;0.999	D;D;D;D	0.65874	0.912;0.939;0.911;0.939	T	0.70876	-0.4753	10	0.72032	D	0.01	-9.7734	11.4581	0.50193	0.0915:0.0:0.9085:0.0	.	104;235;187;235	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	Y	235	ENSP00000367494:D235Y;ENSP00000376782:D235Y	ENSP00000367494:D235Y	D	+	1	0	SPIRE2	88448252	1.000000	0.71417	0.047000	0.18901	0.007000	0.05969	5.492000	0.66893	1.223000	0.43536	0.563000	0.77884	GAC		0.657	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462	
DLGAP1	9229	hgsc.bcm.edu	37	18	3879898	3879898	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr18:3879898G>A	ENST00000315677.3	-	4	766	c.171C>T	c.(169-171)tgC>tgT	p.C57C	DLGAP1_ENST00000581527.1_Silent_p.C57C|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.C57C|DLGAP1_ENST00000584874.1_Silent_p.C57C	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	57					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGGGGCCCACGCACTCAGCCT	0.672																																																	0			18											52.0	53.0	53.0					18																	3879898		2203	4300	6503	3869898	SO:0001819	synonymous_variant	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.171C>T	18.37:g.3879898G>A			3869898	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	CCDS11836.1																																																																																				0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
MTCL1	23255	hgsc.bcm.edu	37	18	8825456	8825456	+	Silent	SNP	G	G	A	rs147203549	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr18:8825456G>A	ENST00000306329.11	+	13	4905	c.4905G>A	c.(4903-4905)acG>acA	p.T1635T	SOGA2_ENST00000306285.7_Silent_p.T641T|SOGA2_ENST00000359865.3_Silent_p.T1316T|SOGA2_ENST00000518815.1_Silent_p.T641T|SOGA2_ENST00000400050.3_Silent_p.T1275T|SOGA2_ENST00000517570.1_Silent_p.T1275T																							GGTCCCGGACGATGGGGACCC	0.607													G|||	2	0.000399361	0.0	0.0014	5008	,	,		19426	0.0		0.001	False		,,,				2504	0.0																0			18						G		1,4405	2.1+/-5.4	0,1,2202	34.0	34.0	34.0		3948	-10.8	0.0	18	dbSNP_134	34	0,8598		0,0,4299	no	coding-synonymous	CCDC165	NM_015210.3		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		1316/1587	8825456	1,13003	2203	4299	6502	8815456	SO:0001819	synonymous_variant	23255																														ENST00000306329.11:c.4905G>A	18.37:g.8825456G>A			8815456		Silent	SNP	ENST00000306329.11	37																																																																																					0.607	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1		
SMAD4	4089	hgsc.bcm.edu	37	18	48604662	48604662	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr18:48604662T>G	ENST00000342988.3	+	12	2022	c.1484T>G	c.(1483-1485)cTt>cGt	p.L495R	SMAD4_ENST00000588745.1_Missense_Mutation_p.L399R|SMAD4_ENST00000398417.2_Missense_Mutation_p.L495R|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	495	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GTTGATGACCTTCGTCGCTTA	0.468																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	18											124.0	106.0	112.0					18																	48604662		2203	4300	6503	46858660	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1484T>G	18.37:g.48604662T>G	ENSP00000341551:p.Leu495Arg		46858660	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.791064	0.70452	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.98633	-5.04;-5.04	5.99	5.99	0.97316	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.061993	0.64402	D	0.000003	D	0.99333	0.9766	M	0.93720	3.45	0.80722	D	1	D	0.67145	0.996	D	0.74023	0.982	D	0.98842	1.0755	10	0.87932	D	0	.	15.4471	0.75238	0.0:0.0:0.0:1.0	.	495	Q13485	SMAD4_HUMAN	R	495	ENSP00000341551:L495R;ENSP00000381452:L495R	ENSP00000341551:L495R	L	+	2	0	SMAD4	46858660	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.819000	0.86621	2.292000	0.77174	0.533000	0.62120	CTT		0.468	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
TTLL3	26140	hgsc.bcm.edu	37	3	9871013	9871013	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:9871013C>T	ENST00000547186.1	+	10	1704	c.1488C>T	c.(1486-1488)cgC>cgT	p.R496R	TTLL3_ENST00000397241.1_Silent_p.R284R|ARPC4-TTLL3_ENST00000397256.1_Silent_p.R557R|TTLL3_ENST00000383827.1_Silent_p.R284R|TTLL3_ENST00000426895.4_Silent_p.R639R|TTLL3_ENST00000455274.1_Silent_p.R284R|TTLL3_ENST00000430793.1_Silent_p.R284R|TTLL3_ENST00000427853.3_Silent_p.R284R|TTLL3_ENST00000466245.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	496	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.R496R(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					ACACCCTGCGCGTGGTCATTG	0.617																																																	2	Substitution - coding silent(2)	large_intestine(1)|endometrium(1)	3											68.0	68.0	68.0					3																	9871013		2203	4300	6503	9846013	SO:0001819	synonymous_variant	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.1488C>T	3.37:g.9871013C>T			9846013	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Silent	SNP	ENST00000547186.1	37		.	.	.	.	.	.	.	.	.	.	C	8.216	0.801441	0.16397	.	.	ENSG00000214021	ENST00000310252	T	0.19806	2.12	5.03	-10.1	0.00402	.	0.070909	0.53938	U	0.000044	T	0.27313	0.0670	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63791	-0.6557	7	0.56958	D	0.05	.	12.6263	0.56632	0.0771:0.1524:0.0:0.7705	.	.	.	.	C	452	ENSP00000312148:R452C	ENSP00000312148:R452C	R	+	1	0	TTLL3	9846013	0.000000	0.05858	0.440000	0.26846	0.776000	0.43924	-3.582000	0.00424	-2.490000	0.00517	-1.138000	0.01928	CGT		0.617	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2	
VHL	7428	hgsc.bcm.edu	37	3	10188250	10188250	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:10188250C>T	ENST00000256474.2	+	2	1233	c.393C>T	c.(391-393)aaC>aaT	p.N131N	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Intron	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	131	Involved in binding to CCT complex.		N -> K (in VHLD; type I). {ECO:0000269|PubMed:9829912}.|N -> T (in VHLD; type I). {ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.N131fs*27(2)|p.N131K(2)|p.Q132fs*27(1)|p.N131fs*10(1)|p.H125fs*27(1)|p.N131*(1)|p.N131fs*7(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TTCTGGTTAACCAAACTGAAT	0.453		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	9	Deletion - Frameshift(6)|Substitution - Missense(2)|Complex - frameshift(1)	kidney(9)	3	GRCh37	CM042502|CX073799	VHL	M|X							207.0	191.0	197.0					3																	10188250		2203	4300	6503	10163250	SO:0001819	synonymous_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.393C>T	3.37:g.10188250C>T			10163250	B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				0.453	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
FBLN2	2199	hgsc.bcm.edu	37	3	13613027	13613027	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:13613027C>T	ENST00000295760.7	+	2	1241	c.1172C>T	c.(1171-1173)aCa>aTa	p.T391I	FBLN2_ENST00000535798.1_Missense_Mutation_p.T417I|FBLN2_ENST00000404922.3_Missense_Mutation_p.T391I|FBLN2_ENST00000492059.1_Missense_Mutation_p.T391I	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	391	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ATCCTGTCCACATCACTGCCT	0.642																																																	0			3											32.0	44.0	40.0					3																	13613027		2130	4220	6350	13588028	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1172C>T	3.37:g.13613027C>T	ENSP00000295760:p.Thr391Ile		13588028	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	6.155	0.396820	0.11638	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80033	-1.33;-1.27;-1.24;-1.27	4.67	1.9	0.25705	.	1.315320	0.04861	N	0.444070	T	0.72953	0.3525	L	0.32530	0.975	0.09310	N	1	B;B;B	0.24823	0.04;0.002;0.112	B;B;B	0.24394	0.022;0.004;0.053	T	0.59096	-0.7518	10	0.56958	D	0.05	.	7.6972	0.28602	0.0:0.663:0.0:0.337	.	391;391;417	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	I	417;391;391;391	ENSP00000445705:T417I;ENSP00000384169:T391I;ENSP00000295760:T391I;ENSP00000420042:T391I	ENSP00000295760:T391I	T	+	2	0	FBLN2	13588028	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.077000	0.11394	0.169000	0.19679	-0.142000	0.14014	ACA		0.642	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
XIRP1	165904	hgsc.bcm.edu	37	3	39227196	39227196	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:39227196C>T	ENST00000340369.3	-	2	3969	c.3741G>A	c.(3739-3741)ccG>ccA	p.P1247P	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1247	Pro-rich.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TATGGGGGTGCGGGCTGGCAC	0.637																																																	0			3											28.0	34.0	32.0					3																	39227196		2203	4299	6502	39202200	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3741G>A	3.37:g.39227196C>T			39202200	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																				0.637	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
XIRP1	165904	hgsc.bcm.edu	37	3	39229116	39229116	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:39229116G>A	ENST00000340369.3	-	2	2049	c.1821C>T	c.(1819-1821)gcC>gcT	p.A607A	XIRP1_ENST00000396251.1_Silent_p.A607A|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	607	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCTGCTTTTCGGCCAACTCAC	0.602																																																	0			3											82.0	71.0	74.0					3																	39229116		2203	4300	6503	39204120	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1821C>T	3.37:g.39229116G>A			39204120	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	CCDS2683.1																																																																																				0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
SEMA3F	6405	hgsc.bcm.edu	37	3	50197135	50197135	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:50197135C>A	ENST00000002829.3	+	2	564	c.80C>A	c.(79-81)cCg>cAg	p.P27Q	SEMA3F_ENST00000413852.1_5'UTR|SEMA3F_ENST00000434342.1_Missense_Mutation_p.P27Q	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	27					axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|negative regulation of axon extension involved in axon guidance (GO:0048843)|nerve development (GO:0021675)|neural crest cell migration (GO:0001755)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	extracellular space (GO:0005615)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|receptor activity (GO:0004872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GACCACCTCCCGGCCACGCCC	0.607																																																	0			3											47.0	49.0	48.0					3																	50197135		2203	4300	6503	50172139	SO:0001583	missense	6405			U33920	CCDS2811.1	3p21.3	2013-01-11			ENSG00000001617	ENSG00000001617		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10728	protein-coding gene	gene with protein product	"""sema IV"""	601124				8786119, 8649831	Standard	NM_004186		Approved	SEMAK, Sema4	uc003cyj.3	Q13275	OTTHUMG00000156806	ENST00000002829.3:c.80C>A	3.37:g.50197135C>A	ENSP00000002829:p.Pro27Gln		50172139	C9JQ85|Q13274|Q13372|Q15704|Q6GTR4	Missense_Mutation	SNP	ENST00000002829.3	37	CCDS2811.1	.	.	.	.	.	.	.	.	.	.	C	6.742	0.505635	0.12822	.	.	ENSG00000001617	ENST00000414301;ENST00000450338;ENST00000002829;ENST00000426511;ENST00000434342	T;T;T;T	0.50277	2.03;1.84;0.75;0.81	5.6	-1.68	0.08212	Semaphorin/CD100 antigen (1);	0.542636	0.18802	N	0.130764	T	0.15478	0.0373	N	0.14661	0.345	0.09310	N	0.999996	P;B	0.38582	0.638;0.01	B;B	0.29663	0.105;0.003	T	0.39313	-0.9620	10	0.02654	T	1	.	3.6648	0.08252	0.3485:0.2424:0.0:0.4091	.	27;27	C9JQ85;Q13275	.;SEM3F_HUMAN	Q	27	ENSP00000392588:P27Q;ENSP00000398399:P27Q;ENSP00000002829:P27Q;ENSP00000409859:P27Q	ENSP00000002829:P27Q	P	+	2	0	SEMA3F	50172139	0.000000	0.05858	0.036000	0.18154	0.005000	0.04900	-0.785000	0.04628	-0.120000	0.11809	-0.140000	0.14226	CCG		0.607	SEMA3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345929.1	NM_004186	
CADM2	253559	hgsc.bcm.edu	37	3	85775653	85775653	+	Intron	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:85775653A>G	ENST00000407528.2	+	2	123				CADM2_ENST00000405615.2_Missense_Mutation_p.N8D|CADM2_ENST00000383699.3_Intron	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTTCTTGTGCAACCTTTCCTT	0.348																																																	0			3											159.0	159.0	159.0					3																	85775653		2203	4300	6503	85858343	SO:0001627	intron_variant	253559			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.62-75544A>G	3.37:g.85775653A>G			85858343	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	4.558	0.103649	0.08731	.	.	ENSG00000175161	ENST00000405615	T	0.63096	-0.02	5.41	2.82	0.32997	.	0.761709	0.12124	N	0.497440	T	0.39759	0.1090	.	.	.	0.25603	N	0.986577	B	0.21905	0.062	B	0.18263	0.021	T	0.22836	-1.0205	9	0.13470	T	0.59	.	6.305	0.21133	0.5794:0.144:0.0:0.2766	.	8	Q8N3J6-3	.	D	8	ENSP00000384193:N8D	ENSP00000384193:N8D	N	+	1	0	CADM2	85858343	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	2.180000	0.42537	0.830000	0.34757	0.482000	0.46254	AAC		0.348	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
C3orf38	285237	hgsc.bcm.edu	37	3	88205255	88205255	+	Missense_Mutation	SNP	A	A	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:88205255A>C	ENST00000318887.3	+	3	770	c.460A>C	c.(460-462)Aat>Cat	p.N154H	C3orf38_ENST00000486971.1_Intron	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	154					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TGGACTTCTTAATTCTCAGAA	0.383																																																	0			3											69.0	66.0	67.0					3																	88205255		2203	4300	6503	88287945	SO:0001583	missense	285237			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.460A>C	3.37:g.88205255A>C	ENSP00000322469:p.Asn154His		88287945	B2R8X6|Q8TC85	Missense_Mutation	SNP	ENST00000318887.3	37	CCDS2921.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.143810	0.77888	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.77239	0.4101	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79764	-0.1666	9	0.87932	D	0	-18.5135	15.3164	0.74081	1.0:0.0:0.0:0.0	.	154	Q5JPI3	CC038_HUMAN	H	154	.	ENSP00000322469:N154H	N	+	1	0	C3orf38	88287945	1.000000	0.71417	0.990000	0.47175	0.930000	0.56654	8.497000	0.90488	2.261000	0.74972	0.460000	0.39030	AAT		0.383	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824	
IMPG2	50939	hgsc.bcm.edu	37	3	101038446	101038446	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:101038446T>C	ENST00000193391.7	-	2	503	c.316A>G	c.(316-318)Aag>Gag	p.K106E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	106					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	TTAAAATACTTCACATGATTT	0.373																																																	0			3											141.0	138.0	139.0					3																	101038446		2203	4300	6503	102521136	SO:0001583	missense	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.316A>G	3.37:g.101038446T>C	ENSP00000193391:p.Lys106Glu		102521136	A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.314535	0.60524	.	.	ENSG00000081148	ENST00000193391	T	0.76186	-1.0	5.52	4.36	0.52297	.	0.131864	0.51477	D	0.000082	T	0.67335	0.2882	L	0.55834	1.745	0.29664	N	0.842967	B	0.27498	0.18	B	0.23150	0.044	T	0.65319	-0.6197	10	0.56958	D	0.05	-6.9647	10.001	0.41929	0.0:0.0767:0.0:0.9233	.	106	Q9BZV3	IMPG2_HUMAN	E	106	ENSP00000193391:K106E	ENSP00000193391:K106E	K	-	1	0	IMPG2	102521136	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	5.717000	0.68446	0.929000	0.37192	0.460000	0.39030	AAG		0.373	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3		
KIAA1407	57577	hgsc.bcm.edu	37	3	113753852	113753852	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:113753852T>C	ENST00000295878.3	-	6	884	c.738A>G	c.(736-738)gaA>gaG	p.E246E	KIAA1407_ENST00000545063.1_Silent_p.E77E	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	246										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GAATCTCCTCTTCCTCTTTCT	0.473																																																	0			3											200.0	192.0	195.0					3																	113753852		2203	4300	6503	115236542	SO:0001819	synonymous_variant	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.738A>G	3.37:g.113753852T>C			115236542	B4DYL1|Q9P2E0	Silent	SNP	ENST00000295878.3	37	CCDS2977.1																																																																																				0.473	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	
FBXO40	51725	hgsc.bcm.edu	37	3	121340337	121340337	+	Missense_Mutation	SNP	C	C	A	rs572469869		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:121340337C>A	ENST00000338040.4	+	3	475	c.61C>A	c.(61-63)Cgc>Agc	p.R21S		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	21					muscle cell differentiation (GO:0042692)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R21C(1)|p.R21S(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		ATGCTTCAACCGCCACTGCCA	0.567																																																	2	Substitution - Missense(2)	lung(1)|breast(1)	3											99.0	91.0	94.0					3																	121340337		2203	4300	6503	122823027	SO:0001583	missense	51725			AF204674	CCDS33835.1	3q21.1	2004-08-24			ENSG00000163833	ENSG00000163833		"""F-boxes /  ""other"""""	29816	protein-coding gene	gene with protein product		609107				10574462	Standard	NM_016298		Approved	KIAA1195, Fbx40	uc003eeg.2	Q9UH90	OTTHUMG00000159410	ENST00000338040.4:c.61C>A	3.37:g.121340337C>A	ENSP00000337510:p.Arg21Ser		122823027	B2RAX7|Q32M70|Q9ULM5	Missense_Mutation	SNP	ENST00000338040.4	37	CCDS33835.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.122759	0.56613	.	.	ENSG00000163833	ENST00000338040	T	0.13307	2.6	5.45	5.45	0.79879	.	0.177226	0.49916	D	0.000133	T	0.30885	0.0779	M	0.66939	2.045	0.44908	D	0.997923	D	0.61080	0.989	P	0.60789	0.879	T	0.01319	-1.1386	10	0.87932	D	0	-16.602	11.8089	0.52171	0.1752:0.8248:0.0:0.0	.	21	Q9UH90	FBX40_HUMAN	S	21	ENSP00000337510:R21S	ENSP00000337510:R21S	R	+	1	0	FBXO40	122823027	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	4.664000	0.61540	2.575000	0.86900	0.561000	0.74099	CGC		0.567	FBXO40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355158.1	NM_016298	
OSBPL11	114885	hgsc.bcm.edu	37	3	125271292	125271292	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:125271292T>C	ENST00000296220.5	-	9	1676	c.1387A>G	c.(1387-1389)Atg>Gtg	p.M463V		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	463					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|positive regulation of sequestering of triglyceride (GO:0010890)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)	p.M463V(1)		NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						CTTTTTGGCATCTTCCAGGAA	0.458																																																	1	Substitution - Missense(1)	ovary(1)	3											109.0	99.0	102.0					3																	125271292		2203	4300	6503	126753982	SO:0001583	missense	114885			AF392454	CCDS3033.1	3q21	2013-01-10			ENSG00000144909	ENSG00000144909		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16397	protein-coding gene	gene with protein product		606739					Standard	NM_022776		Approved	ORP-11, ORP11, FLJ13012, FLJ13164	uc003eic.3	Q9BXB4	OTTHUMG00000159571	ENST00000296220.5:c.1387A>G	3.37:g.125271292T>C	ENSP00000296220:p.Met463Val		126753982	A8K9I7	Missense_Mutation	SNP	ENST00000296220.5	37	CCDS3033.1	.	.	.	.	.	.	.	.	.	.	T	0.350	-0.945368	0.02304	.	.	ENSG00000144909	ENST00000296220	T	0.27557	1.66	4.74	1.03	0.20045	.	0.293069	0.39759	N	0.001266	T	0.03477	0.0100	N	0.00036	-2.54	0.39674	D	0.970792	B	0.02656	0.0	B	0.01281	0.0	T	0.37430	-0.9706	10	0.02654	T	1	-21.0904	4.7671	0.13137	0.0:0.2324:0.1507:0.6169	.	463	Q9BXB4	OSB11_HUMAN	V	463	ENSP00000296220:M463V	ENSP00000296220:M463V	M	-	1	0	OSBPL11	126753982	0.292000	0.24362	0.916000	0.36221	0.954000	0.61252	0.339000	0.19875	0.033000	0.15463	0.482000	0.46254	ATG		0.458	OSBPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356295.1	NM_022776	
PLXND1	23129	hgsc.bcm.edu	37	3	129290685	129290685	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:129290685C>T	ENST00000324093.4	-	16	3258	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	PLXND1_ENST00000393239.1_Missense_Mutation_p.R1027H	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1027	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GGTATCTGTGCGCCTGGGGGG	0.677																																					Ovarian(97;366 1484 3738 22084 39045)												0			3											17.0	17.0	17.0					3																	129290685		2193	4297	6490	130773375	SO:0001583	missense	23129			AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3080G>A	3.37:g.129290685C>T	ENSP00000317128:p.Arg1027His		130773375	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	37	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.390453	0.42410	.	.	ENSG00000004399	ENST00000324093;ENST00000393239	T;T	0.76060	-0.99;-0.99	4.48	4.48	0.54585	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.072717	0.53938	D	0.000051	D	0.87732	0.6251	M	0.86651	2.83	0.49915	D	0.999836	D	0.89917	1.0	D	0.72982	0.979	D	0.90547	0.4506	10	0.87932	D	0	.	17.1864	0.86868	0.0:1.0:0.0:0.0	.	1027	Q9Y4D7	PLXD1_HUMAN	H	1027	ENSP00000317128:R1027H;ENSP00000376931:R1027H	ENSP00000317128:R1027H	R	-	2	0	PLXND1	130773375	0.903000	0.30736	0.992000	0.48379	0.095000	0.18619	1.685000	0.37659	2.057000	0.61298	0.555000	0.69702	CGC		0.677	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
TNFSF10	8743	hgsc.bcm.edu	37	3	172224435	172224435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:172224435C>T	ENST00000241261.2	-	5	815	c.693G>A	c.(691-693)tgG>tgA	p.W231*	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	231					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)	p.W231*(1)		breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CATCTTTAGACCAACAACTAT	0.328																																																	1	Substitution - Nonsense(1)	skin(1)	3											222.0	214.0	217.0					3																	172224435		2203	4300	6503	173707129	SO:0001587	stop_gained	8743			U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.693G>A	3.37:g.172224435C>T	ENSP00000241261:p.Trp231*		173707129	A1Y9B3	Nonsense_Mutation	SNP	ENST00000241261.2	37	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776359	0.49786	.	.	ENSG00000121858	ENST00000241261	.	.	.	5.68	4.81	0.61882	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9718	14.9323	0.70926	0.0:0.9312:0.0:0.0688	.	.	.	.	X	231	.	ENSP00000241261:W231X	W	-	3	0	TNFSF10	173707129	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	6.522000	0.73783	1.546000	0.49388	-0.229000	0.12294	TGG		0.328	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1		
ACRBP	84519	hgsc.bcm.edu	37	12	6749646	6749646	+	Missense_Mutation	SNP	G	G	A	rs369836113		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:6749646G>A	ENST00000229243.2	-	7	1213	c.1120C>T	c.(1120-1122)Ctc>Ttc	p.L374F	ACRBP_ENST00000414226.2_Missense_Mutation_p.L341F|ACRBP_ENST00000542357.1_5'UTR	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AAGTCACAGAGGGCACAGGTA	0.612																																																	0			12						G	PHE/LEU	0,4406		0,0,2203	52.0	54.0	53.0		1120	1.9	0.9	12		53	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACRBP	NM_032489.2	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	374/544	6749646	1,13005	2203	4300	6503	6619907	SO:0001583	missense	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1120C>T	12.37:g.6749646G>A	ENSP00000229243:p.Leu374Phe		6619907		Missense_Mutation	SNP	ENST00000229243.2	37	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	G	12.16	1.855324	0.32791	0.0	1.16E-4	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.47528	0.84;0.84	5.22	1.93	0.25924	.	1.066800	0.07293	N	0.872865	T	0.41351	0.1155	L	0.50333	1.59	0.09310	N	0.999999	B;B	0.17465	0.022;0.022	B;B	0.12837	0.008;0.008	T	0.32241	-0.9914	10	0.37606	T	0.19	0.0207	7.2435	0.26109	0.2524:0.1639:0.5837:0.0	.	341;374	E7EP66;Q8NEB7	.;ACRBP_HUMAN	F	374;341	ENSP00000229243:L374F;ENSP00000402725:L341F	ENSP00000229243:L374F	L	-	1	0	ACRBP	6619907	0.815000	0.29118	0.938000	0.37757	0.974000	0.67602	1.125000	0.31332	0.594000	0.29761	0.561000	0.74099	CTC		0.612	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489	
PLXNC1	10154	hgsc.bcm.edu	37	12	94543506	94543506	+	Silent	SNP	C	C	T	rs2230754	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:94543506C>T	ENST00000258526.4	+	1	1008	c.759C>T	c.(757-759)taC>taT	p.Y253Y		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	253	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCTACAACTACACGAGCGGCG	0.682													C|||	2261	0.451478	0.5204	0.4654	5008	,	,		15562	0.4831		0.34	False		,,,				2504	0.4305																0			12						C		1851,2441		433,985,728	31.0	36.0	34.0		759	4.1	1.0	12	dbSNP_98	34	3103,5439		592,1919,1760	no	coding-synonymous	PLXNC1	NM_005761.2		1025,2904,2488	TT,TC,CC		36.3264,43.1267,38.6006		253/1569	94543506	4954,7880	2146	4271	6417	93067637	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.759C>T	12.37:g.94543506C>T			93067637	Q59H25	Silent	SNP	ENST00000258526.4	37	CCDS9049.1																																																																																				0.682	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
UHRF1BP1L	23074	hgsc.bcm.edu	37	12	100476887	100476887	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:100476887T>C	ENST00000279907.7	-	11	1526	c.1314A>G	c.(1312-1314)acA>acG	p.T438T	UHRF1BP1L_ENST00000356828.3_Silent_p.T438T|UHRF1BP1L_ENST00000545232.2_Silent_p.T88T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	438										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTGCATGTCCCTTTCA	0.348																																																	0			12											156.0	141.0	146.0					12																	100476887		2203	4300	6503	99001018	SO:0001819	synonymous_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.1314A>G	12.37:g.100476887T>C			99001018	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	ENST00000279907.7	37	CCDS31882.1																																																																																				0.348	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947	
NR1H4	9971	hgsc.bcm.edu	37	12	100930770	100930770	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:100930770G>A	ENST00000551379.1	+	6	934	c.906G>A	c.(904-906)acG>acA	p.T302T	NR1H4_ENST00000549996.1_Silent_p.T241T|NR1H4_ENST00000548884.1_Silent_p.T288T|NR1H4_ENST00000392986.3_Silent_p.T292T|NR1H4_ENST00000188403.7_Silent_p.T298T			Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	302	Ligand-binding.				bile acid metabolic process (GO:0008206)|cellular response to acid chemical (GO:0071229)|cellular response to organonitrogen compound (GO:0071417)|digestive tract development (GO:0048565)|gene expression (GO:0010467)|intracellular bile acid receptor signaling pathway (GO:0038185)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nitrogen catabolite activation of transcription from RNA polymerase II promoter (GO:0001080)|positive regulation of ammonia assimilation cycle (GO:2001250)|positive regulation of glutamate metabolic process (GO:2000213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of carbohydrate metabolic process (GO:0006109)|regulation of cholesterol metabolic process (GO:0090181)|regulation of urea metabolic process (GO:0034255)|response to glucose (GO:0009749)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)	bile acid binding (GO:0032052)|bile acid receptor activity (GO:0038181)|chenodeoxycholic acid binding (GO:1902122)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor binding (GO:0016922)|peptide binding (GO:0042277)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44					Chenodeoxycholic acid(DB06777)	TCATTTTGACGGAAATGGCAA	0.244																																																	0			12											69.0	82.0	78.0					12																	100930770		2194	4281	6475	99454901	SO:0001819	synonymous_variant	9971			U68233	CCDS9078.1, CCDS55873.1, CCDS55874.1, CCDS55875.1, CCDS55876.1	12q23.1	2013-01-16				ENSG00000012504		"""Nuclear hormone receptors"""	7967	protein-coding gene	gene with protein product		603826				7774010, 9223286	Standard	NM_001206977		Approved	FXR, RIP14, HRR1, HRR-1	uc001tht.2	Q96RI1	OTTHUMG00000170359	ENST00000551379.1:c.906G>A	12.37:g.100930770G>A			99454901	A1L4K5|B7Z412|B7ZM06|F8VYG8|Q8NFP5|Q8NFP6|Q92943	Silent	SNP	ENST00000551379.1	37	CCDS55876.1																																																																																				0.244	NR1H4-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409140.1	NM_005123	
PARPBP	55010	hgsc.bcm.edu	37	12	102572530	102572530	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:102572530C>T	ENST00000358383.5	+	8	1211	c.1166C>T	c.(1165-1167)tCt>tTt	p.S389F	PARPBP_ENST00000541394.1_Missense_Mutation_p.S466F|PARPBP_ENST00000392911.2_Missense_Mutation_p.S308F|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000327680.2_Missense_Mutation_p.S308F|PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000543784.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	389					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CATGGAACGTCTATTCTTACA	0.318																																																	0			12											92.0	89.0	90.0					12																	102572530		2203	4300	6503	101096660	SO:0001583	missense	55010			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.1166C>T	12.37:g.102572530C>T	ENSP00000351153:p.Ser389Phe		101096660	B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Missense_Mutation	SNP	ENST00000358383.5	37	CCDS9090.2	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440598	0.43326	.	.	ENSG00000185480	ENST00000327680;ENST00000541394;ENST00000358383;ENST00000392911	T;T;T;T	0.53423	0.62;0.62;0.63;0.62	5.65	5.65	0.86999	.	0.143127	0.64402	D	0.000004	T	0.69602	0.3129	M	0.72894	2.215	0.45621	D	0.998557	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.961	T	0.71797	-0.4484	10	0.87932	D	0	-14.0851	19.3314	0.94291	0.0:1.0:0.0:0.0	.	466;389	B4DZ31;Q9NWS1	.;PR1BP_HUMAN	F	308;466;389;308	ENSP00000332915:S308F;ENSP00000440850:S466F;ENSP00000351153:S389F;ENSP00000376643:S308F	ENSP00000332915:S308F	S	+	2	0	C12orf48	101096660	1.000000	0.71417	0.476000	0.27291	0.251000	0.25915	3.978000	0.56881	2.652000	0.90054	0.650000	0.86243	TCT		0.318	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2	NM_017915	
ACACB	32	hgsc.bcm.edu	37	12	109660682	109660682	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:109660682A>G	ENST00000338432.7	+	26	3876	c.3757A>G	c.(3757-3759)Atg>Gtg	p.M1253V	ACACB_ENST00000377854.5_Missense_Mutation_p.M1183V|ACACB_ENST00000377848.3_Missense_Mutation_p.M1253V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1253					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGCCATTGACATGTACGGCCA	0.612																																																	0			12											93.0	66.0	75.0					12																	109660682		2203	4300	6503	108145065	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3757A>G	12.37:g.109660682A>G	ENSP00000341044:p.Met1253Val		108145065	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	8.115	0.779607	0.16120	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.36520	1.25;1.25;1.25	5.07	2.54	0.30619	Acetyl-CoA carboxylase, central domain (1);	0.125647	0.64402	D	0.000001	T	0.27169	0.0666	L	0.60455	1.87	0.80722	D	1	B	0.18741	0.03	B	0.25614	0.062	T	0.07385	-1.0775	10	0.17369	T	0.5	.	2.3134	0.04192	0.5618:0.1298:0.0768:0.2315	.	1253	O00763	ACACB_HUMAN	V	1253;1253;1183;484	ENSP00000341044:M1253V;ENSP00000367079:M1253V;ENSP00000367085:M1183V	ENSP00000341044:M1253V	M	+	1	0	ACACB	108145065	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.280000	0.43443	0.890000	0.36211	0.528000	0.53228	ATG		0.612	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
HIP1R	9026	hgsc.bcm.edu	37	12	123344995	123344995	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:123344995A>T	ENST00000253083.4	+	27	2710	c.2585A>T	c.(2584-2586)tAc>tTc	p.Y862F		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	862	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CAGGAATTTTACGCCAAGAAC	0.647											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			12											57.0	64.0	62.0					12																	123344995		2203	4300	6503	121910948	SO:0001583	missense	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2585A>T	12.37:g.123344995A>T	ENSP00000253083:p.Tyr862Phe	1526	121910948	A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	A	34	5.367916	0.95900	.	.	ENSG00000130787	ENST00000253083	T	0.54675	0.56	5.33	5.33	0.75918	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.80025	0.4548	H	0.94503	3.545	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86015	0.1503	10	0.87932	D	0	-25.7474	14.9737	0.71254	1.0:0.0:0.0:0.0	.	862	O75146	HIP1R_HUMAN	F	862	ENSP00000253083:Y862F	ENSP00000253083:Y862F	Y	+	2	0	HIP1R	121910948	1.000000	0.71417	0.989000	0.46669	0.936000	0.57629	9.237000	0.95368	2.013000	0.59113	0.533000	0.62120	TAC		0.647	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959	
HIP1R	9026	hgsc.bcm.edu	37	12	123344997	123344997	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:123344997G>T	ENST00000253083.4	+	27	2712	c.2587G>T	c.(2587-2589)Gcc>Tcc	p.A863S		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	863	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGAATTTTACGCCAAGAACTC	0.642											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			12											57.0	64.0	62.0					12																	123344997		2203	4300	6503	121910950	SO:0001583	missense	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.2587G>T	12.37:g.123344997G>T	ENSP00000253083:p.Ala863Ser	1526	121910950	A6NHQ6|Q6NXG8|Q9UED9	Missense_Mutation	SNP	ENST00000253083.4	37	CCDS31922.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409445	0.96072	.	.	ENSG00000130787	ENST00000253083	T	0.41758	0.99	5.33	5.33	0.75918	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.53674	0.1811	L	0.38692	1.165	0.80722	D	1	P	0.40578	0.722	P	0.60286	0.872	T	0.35101	-0.9802	10	0.17832	T	0.49	-26.4801	18.63	0.91357	0.0:0.0:1.0:0.0	.	863	O75146	HIP1R_HUMAN	S	863	ENSP00000253083:A863S	ENSP00000253083:A863S	A	+	1	0	HIP1R	121910950	1.000000	0.71417	0.996000	0.52242	0.930000	0.56654	9.760000	0.98935	2.486000	0.83907	0.655000	0.94253	GCC		0.642	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400935.1	NM_003959	
OR4N4	283694	hgsc.bcm.edu	37	15	22382522	22382522	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:22382522T>C	ENST00000328795.4	+	1	141	c.50T>C	c.(49-51)cTg>cCg	p.L17P	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	17						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCTTGGTCTGACTCAGTCT	0.353																																																	0			15											139.0	135.0	137.0					15																	22382522		2187	4260	6447	19883886	SO:0001583	missense	283694			AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.50T>C	15.37:g.22382522T>C	ENSP00000332500:p.Leu17Pro		19883886	Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	8.244	0.807557	0.16467	.	.	ENSG00000183706	ENST00000328795	T	0.00344	8.02	3.24	3.24	0.37175	.	0.000000	0.37857	N	0.001901	T	0.01061	0.0035	H	0.94658	3.565	0.22412	N	0.999123	D	0.89917	1.0	D	0.83275	0.996	T	0.14420	-1.0473	10	0.87932	D	0	-8.0908	9.793	0.40717	0.0:0.0:0.0:1.0	.	17	Q8N0Y3	OR4N4_HUMAN	P	17	ENSP00000332500:L17P	ENSP00000332500:L17P	L	+	2	0	OR4N4	19883886	0.081000	0.21417	0.160000	0.22671	0.108000	0.19459	2.867000	0.48428	1.465000	0.48006	0.164000	0.16699	CTG		0.353	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1		
RYR3	6263	hgsc.bcm.edu	37	15	33893658	33893658	+	Silent	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:33893658G>T	ENST00000389232.4	+	17	1897	c.1827G>T	c.(1825-1827)ggG>ggT	p.G609G	RYR3_ENST00000415757.3_Silent_p.G609G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	609	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.G609G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTGCAATGGGGTTGCAGTGA	0.547																																																	1	Substitution - coding silent(1)	ovary(1)	15											118.0	110.0	113.0					15																	33893658		2064	4218	6282	31680950	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1827G>T	15.37:g.33893658G>T			31680950	O15175|Q15412	Silent	SNP	ENST00000389232.4	37	CCDS45210.1																																																																																				0.547	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
RPAP1	26015	hgsc.bcm.edu	37	15	41813106	41813106	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:41813106G>A	ENST00000304330.4	-	22	3394	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1093	Leu-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGCGGCTCCGTAGGCATGGG	0.657																																																	0			15											57.0	48.0	51.0					15																	41813106		2203	4300	6503	39600398	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.3278C>T	15.37:g.41813106G>A	ENSP00000306123:p.Thr1093Met		39600398	Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	g	9.843	1.191512	0.21954	.	.	ENSG00000103932	ENST00000304330	T	0.77098	-1.07	5.22	-3.22	0.05125	.	0.389240	0.28653	N	0.014593	T	0.50769	0.1635	N	0.19112	0.55	0.18873	N	0.999986	P	0.48350	0.909	B	0.40565	0.333	T	0.56444	-0.7978	10	0.26408	T	0.33	-1.322	1.5019	0.02478	0.2166:0.1288:0.3585:0.2961	.	1093	Q9BWH6	RPAP1_HUMAN	M	1093	ENSP00000306123:T1093M	ENSP00000306123:T1093M	T	-	2	0	RPAP1	39600398	0.990000	0.36364	0.937000	0.37676	0.150000	0.21749	0.119000	0.15626	-0.782000	0.04541	-3.043000	0.00070	ACG		0.657	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540	
PLA2G4B	100137049	hgsc.bcm.edu	37	15	42132408	42132408	+	Missense_Mutation	SNP	G	G	A	rs569293395		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:42132408G>A	ENST00000452633.1	+	3	414	c.62G>A	c.(61-63)cGc>cAc	p.R21H	JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R21H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R252H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.R252H|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.R252H			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	21	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)						all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CAGGCCCATCGCCTACCCTCT	0.657													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18979	0.0		0.0	False		,,,				2504	0.0																0			15											57.0	49.0	52.0					15																	42132408		2203	4300	6503	39919700	SO:0001583	missense	8681			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.62G>A	15.37:g.42132408G>A	ENSP00000396045:p.Arg21His		39919700	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	13.19	2.163908	0.38217	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.09255	3.0;3.0;3.0;3.0	5.17	1.19	0.21007	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.847376	0.10617	N	0.653837	T	0.07954	0.0199	N	0.05351	-0.065	0.09310	N	1	D;P;P	0.55605	0.972;0.825;0.954	P;B;B	0.48677	0.586;0.135;0.365	T	0.34925	-0.9809	10	0.56958	D	0.05	-11.3489	7.7261	0.28761	0.3511:0.0:0.6489:0.0	.	21;252;252	P0C869;P0C869-7;P0C869-6	PA24B_HUMAN;.;.	H	252;252;21;21	ENSP00000371886:R252H;ENSP00000342785:R252H;ENSP00000416610:R21H;ENSP00000396045:R21H	ENSP00000342785:R252H	R	+	2	0	JMJD7-PLA2G4B;PLA2G4B	39919700	0.017000	0.18338	0.048000	0.18961	0.204000	0.24138	0.458000	0.21892	0.128000	0.18479	-0.140000	0.14226	CGC		0.657	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1	NM_001114633	
MYO5C	55930	hgsc.bcm.edu	37	15	52497322	52497322	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:52497322C>G	ENST00000261839.7	-	38	4721	c.4560G>C	c.(4558-4560)gaG>gaC	p.E1520D	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1520	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CCTGCAGGCTCTCATACTCCA	0.607																																																	0			15											50.0	55.0	53.0					15																	52497322		2007	4149	6156	50284614	SO:0001583	missense	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.4560G>C	15.37:g.52497322C>G	ENSP00000261839:p.Glu1520Asp		50284614	Q6P1W8	Missense_Mutation	SNP	ENST00000261839.7	37	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485158	0.63962	.	.	ENSG00000128833	ENST00000261839	D	0.89746	-2.56	4.66	2.76	0.32466	Dilute (1);	0.000000	0.85682	D	0.000000	D	0.83760	0.5324	L	0.33792	1.035	0.80722	D	1	P	0.36753	0.568	P	0.45639	0.488	T	0.79296	-0.1862	10	0.39692	T	0.17	.	4.556	0.12136	0.0:0.574:0.0:0.426	.	1520	Q9NQX4	MYO5C_HUMAN	D	1520	ENSP00000261839:E1520D	ENSP00000261839:E1520D	E	-	3	2	MYO5C	50284614	1.000000	0.71417	0.999000	0.59377	0.724000	0.41520	2.549000	0.45803	1.311000	0.45024	0.462000	0.41574	GAG		0.607	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
TLN2	83660	hgsc.bcm.edu	37	15	62944241	62944241	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:62944241A>T	ENST00000561311.1	+	5	502	c.272A>T	c.(271-273)aAa>aTa	p.K91I	TLN2_ENST00000306829.6_Missense_Mutation_p.K91I			Q9Y4G6	TLN2_HUMAN	talin 2	91	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGACCTCAGAAAATCCGGATG	0.408																																																	0			15											88.0	91.0	90.0					15																	62944241		2203	4300	6503	60731533	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.272A>T	15.37:g.62944241A>T	ENSP00000453508:p.Lys91Ile		60731533	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.958714	0.92726	.	.	ENSG00000171914	ENST00000306829	T	0.79352	-1.26	5.92	5.92	0.95590	Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86230	0.5883	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	D	0.87728	0.2577	10	0.87932	D	0	-20.252	15.5338	0.75986	1.0:0.0:0.0:0.0	.	91	Q9Y4G6	TLN2_HUMAN	I	91	ENSP00000303476:K91I	ENSP00000303476:K91I	K	+	2	0	TLN2	60731533	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.237000	0.95368	2.268000	0.75426	0.482000	0.46254	AAA		0.408	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
AP3B2	8120	hgsc.bcm.edu	37	15	83331452	83331452	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:83331452C>T	ENST00000261722.3	-	22	2977	c.2770G>A	c.(2770-2772)Gaa>Aaa	p.E924K	AP3B2_ENST00000535359.1_Missense_Mutation_p.E943K|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.E892K	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	924					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GCACCAATTTCGGGAAATTCT	0.577																																																	0			15											31.0	34.0	33.0					15																	83331452		1941	4142	6083	81128507	SO:0001583	missense	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2770G>A	15.37:g.83331452C>T	ENSP00000261722:p.Glu924Lys		81128507	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	ENST00000261722.3	37	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863510	0.71949	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.57436	0.4;0.4;0.42	5.95	5.95	0.96441	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);	0.000000	0.85682	D	0.000000	T	0.72732	0.3497	M	0.76328	2.33	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.981;0.981	T	0.65397	-0.6178	10	0.20046	T	0.44	-21.3809	20.3748	0.98911	0.0:1.0:0.0:0.0	.	892;943;924	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	K	924;892;943	ENSP00000261722:E924K;ENSP00000438721:E892K;ENSP00000440984:E943K	ENSP00000261722:E924K	E	-	1	0	AP3B2	81128507	1.000000	0.71417	0.999000	0.59377	0.787000	0.44495	7.697000	0.84279	2.817000	0.96982	0.563000	0.77884	GAA		0.577	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1		
NTRK3	4916	hgsc.bcm.edu	37	15	88423538	88423538	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:88423538T>C	ENST00000360948.2	-	18	2458	c.2297A>G	c.(2296-2298)tAt>tGt	p.Y766C	NTRK3_ENST00000357724.2_Missense_Mutation_p.Y758C|NTRK3_ENST00000394480.2_Missense_Mutation_p.Y752C|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y744C|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y752C	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	766	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		Y -> F (in a lung carcinoma sample; somatic mutation). {ECO:0000269|PubMed:18293376}.		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Y752F(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGCTTTCCATAGGTGAAGAT	0.517			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	1	Substitution - Missense(1)	lung(1)	15											133.0	122.0	126.0					15																	88423538		2201	4299	6500	86224542	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2297A>G	15.37:g.88423538T>C	ENSP00000354207:p.Tyr766Cys		86224542	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773612	0.69992	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254	D;D;D;D	0.89552	-2.53;-2.53;-2.53;-2.53	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92176	0.7519	L	0.48642	1.525	0.80722	D	1	P;D;D	0.89917	0.883;1.0;0.964	D;D;P	0.87578	0.928;0.998;0.901	D	0.92989	0.6413	10	0.87932	D	0	.	14.1307	0.65253	0.0:0.0:0.0:1.0	.	744;752;766	B7Z4C5;Q16288-3;Q16288	.;.;NTRK3_HUMAN	C	752;766;758;752	ENSP00000377990:Y752C;ENSP00000354207:Y766C;ENSP00000350356:Y758C;ENSP00000347397:Y752C	ENSP00000347397:Y752C	Y	-	2	0	NTRK3	86224542	1.000000	0.71417	0.971000	0.41717	0.998000	0.95712	5.893000	0.69798	2.007000	0.58848	0.533000	0.62120	TAT		0.517	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
MXRA5	25878	hgsc.bcm.edu	37	X	3227826	3227826	+	Silent	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:3227826G>T	ENST00000217939.6	-	7	8572	c.8418C>A	c.(8416-8418)ggC>ggA	p.G2806G		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2806	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACTTGTAGAAGCCGGCATCTC	0.488																																																	0			X											82.0	76.0	78.0					X																	3227826		2203	4300	6503	3237826	SO:0001819	synonymous_variant	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8418C>A	X.37:g.3227826G>T			3237826	Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	CCDS14124.1																																																																																				0.488	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MXRA5	25878	hgsc.bcm.edu	37	X	3240724	3240724	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:3240724A>G	ENST00000217939.6	-	5	3156	c.3002T>C	c.(3001-3003)cTt>cCt	p.L1001P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1001						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGTTGGAGTAAGGTGTGCAAA	0.463																																																	0			X											191.0	146.0	161.0					X																	3240724		2203	4300	6503	3250724	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3002T>C	X.37:g.3240724A>G	ENSP00000217939:p.Leu1001Pro		3250724	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	a	7.998	0.754690	0.15778	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66460	-0.21	3.33	0.607	0.17564	.	1.608970	0.04378	U	0.360350	T	0.42720	0.1215	N	0.14661	0.345	0.09310	N	1	P	0.46277	0.875	B	0.35240	0.198	T	0.41142	-0.9525	10	0.72032	D	0.01	.	1.2723	0.02023	0.5262:0.1856:0.1054:0.1828	.	1001	Q9NR99	MXRA5_HUMAN	P	1001	ENSP00000217939:L1001P	ENSP00000217939:L1001P	L	-	2	0	MXRA5	3250724	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.668000	0.25127	-0.163000	0.10946	0.430000	0.28490	CTT		0.463	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
MID1	4281	hgsc.bcm.edu	37	X	10417466	10417466	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:10417466G>A	ENST00000317552.4	-	10	2346	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	MID1_ENST00000479925.1_5'Flank|MID1_ENST00000380787.1_Missense_Mutation_p.T649M|MID1_ENST00000453318.2_Missense_Mutation_p.T649M|MID1_ENST00000380785.1_Missense_Mutation_p.T649M|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000380779.1_Missense_Mutation_p.T649M|MID1_ENST00000380780.1_Missense_Mutation_p.T649M	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	649	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGTGATAATCGTCAGACACTT	0.542																																																	0			X											89.0	71.0	77.0					X																	10417466		2203	4300	6503	10377466	SO:0001583	missense	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1946C>T	X.37:g.10417466G>A	ENSP00000312678:p.Thr649Met		10377466	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.789279	0.49997	.	.	ENSG00000101871	ENST00000453318;ENST00000317552;ENST00000380785;ENST00000380779;ENST00000380787;ENST00000380780;ENST00000454373	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	L	0.59912	1.85	0.58432	D	0.999999	P;D;P	0.60160	0.926;0.987;0.789	P;P;B	0.53593	0.507;0.73;0.407	T	0.73940	-0.3824	10	0.37606	T	0.19	.	11.9983	0.53216	0.0809:0.0:0.9191:0.0	.	649;649;599	A8K5A0;O15344;B4DLX8	.;TRI18_HUMAN;.	M	649;649;649;649;649;649;599	ENSP00000414521:T649M;ENSP00000312678:T649M;ENSP00000370162:T649M;ENSP00000370156:T649M;ENSP00000370164:T649M;ENSP00000370157:T649M	ENSP00000312678:T649M	T	-	2	0	MID1	10377466	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.438000	0.80431	2.322000	0.78497	0.422000	0.28245	ACG		0.542	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1		
CXorf22	170063	hgsc.bcm.edu	37	X	35971785	35971785	+	Missense_Mutation	SNP	G	G	A	rs145395039		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:35971785G>A	ENST00000297866.5	+	7	1189	c.1123G>A	c.(1123-1125)Gta>Ata	p.V375I		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	375										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTTGAGTCCGTAGGAAGTAA	0.328																																																	0			X						G	ILE/VAL	0,3833		0,0,1631,571	90.0	83.0	85.0		1123	0.1	0.0	X	dbSNP_134	85	1,6725		0,1,2427,1870	no	missense	CXorf22	NM_152632.3	29	0,1,4058,2441	AA,AG,GG,G		0.0149,0.0,0.0095	benign	375/977	35971785	1,10558	2202	4298	6500	35881706	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1123G>A	X.37:g.35971785G>A	ENSP00000297866:p.Val375Ile		35881706	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	G	2.785	-0.252702	0.05829	0.0	1.49E-4	ENSG00000165164	ENST00000297866	T	0.56776	0.44	5.69	0.0515	0.14298	.	0.459833	0.24657	N	0.036675	T	0.34716	0.0907	L	0.55481	1.735	0.09310	N	1	P	0.36171	0.541	B	0.25291	0.059	T	0.16424	-1.0403	10	0.22706	T	0.39	-22.9848	5.9897	0.19454	0.4034:0.0:0.4705:0.1261	.	375	Q6ZTR5	CX022_HUMAN	I	375	ENSP00000297866:V375I	ENSP00000297866:V375I	V	+	1	0	CXorf22	35881706	0.853000	0.29707	0.003000	0.11579	0.001000	0.01503	1.073000	0.30691	-0.063000	0.13065	-0.296000	0.09543	GTA		0.328	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
FAM47C	442444	hgsc.bcm.edu	37	X	37028941	37028941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:37028941G>T	ENST00000358047.3	+	1	2510	c.2458G>T	c.(2458-2460)Gga>Tga	p.G820*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	820								p.G820R(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TACCAAGACCGGAGCGTCCCA	0.552																																																	1	Substitution - Missense(1)	ovary(1)	X											62.0	61.0	61.0					X																	37028941		2202	4300	6502	36938862	SO:0001587	stop_gained	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2458G>T	X.37:g.37028941G>T	ENSP00000367913:p.Gly820*		36938862	Q6ZU46	Nonsense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741785	0.69304	.	.	ENSG00000198173	ENST00000358047	.	.	.	0.14	0.14	0.14804	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	.	.	.	.	.	.	.	X	820	.	ENSP00000367913:G820X	G	+	1	0	FAM47C	36938862	0.019000	0.18553	0.005000	0.12908	0.005000	0.04900	-0.349000	0.07731	0.168000	0.19655	0.169000	0.16792	GGA		0.552	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
ERAS	3266	hgsc.bcm.edu	37	X	48688028	48688028	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:48688028T>C	ENST00000338270.1	+	1	746	c.495T>C	c.(493-495)gcT>gcC	p.A165A	PCSK1N_ENST00000478242.1_5'Flank	NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	165					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						CTCATGCCGCTGCTGCAGCCC	0.642																																																	0			X											29.0	25.0	26.0					X																	48688028		2203	4300	6503	48572972	SO:0001819	synonymous_variant	3266			X00419	CCDS35246.1	Xp11.23	2014-05-09	2003-07-14	2003-07-16	ENSG00000187682	ENSG00000187682			5174	protein-coding gene	gene with protein product		300437	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog pseudogene"""	HRAS2, HRASP		12774123	Standard	NM_181532		Approved		uc031tjl.1	Q7Z444	OTTHUMG00000059533	ENST00000338270.1:c.495T>C	X.37:g.48688028T>C			48572972		Silent	SNP	ENST00000338270.1	37	CCDS35246.1																																																																																				0.642	ERAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132402.1	NM_181532	
MAGEE1	57692	hgsc.bcm.edu	37	X	75649145	75649145	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:75649145C>T	ENST00000361470.2	+	1	1100	c.822C>T	c.(820-822)ccC>ccT	p.P274P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	274	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCGTGCTGCCCGCCGCCTCTG	0.701																																																	0			X											28.0	26.0	27.0					X																	75649145		2198	4297	6495	75565549	SO:0001819	synonymous_variant	728239			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.822C>T	X.37:g.75649145C>T			75565549	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Silent	SNP	ENST00000361470.2	37	CCDS14433.1																																																																																				0.701	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
ARMCX1	51309	hgsc.bcm.edu	37	X	100808743	100808743	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:100808743A>G	ENST00000372829.3	+	4	1201	c.830A>G	c.(829-831)aAc>aGc	p.N277S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	277						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TTGAGTGTGAACGCAGAAAAT	0.433																																																	0			X											111.0	88.0	96.0					X																	100808743		2203	4300	6503	100695399	SO:0001583	missense	51309			AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.830A>G	X.37:g.100808743A>G	ENSP00000361917:p.Asn277Ser		100695399	Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	a	14.35	2.510680	0.44660	.	.	ENSG00000126947	ENST00000372829	T	0.35048	1.33	3.54	2.34	0.29019	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	N	0.22421	0.69	0.39904	D	0.973949	D	0.60160	0.987	D	0.66351	0.943	T	0.16837	-1.0389	10	0.27785	T	0.31	-5.8605	5.1583	0.15046	0.7162:0.0:0.0:0.2838	.	277	Q9P291	ARMX1_HUMAN	S	277	ENSP00000361917:N277S	ENSP00000361917:N277S	N	+	2	0	ARMCX1	100695399	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	2.688000	0.46984	0.528000	0.28580	0.441000	0.28932	AAC		0.433	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	NM_016608	
NRK	203447	hgsc.bcm.edu	37	X	105153287	105153287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:105153287C>T	ENST00000243300.9	+	13	1957	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	NRK_ENST00000428173.2_Nonsense_Mutation_p.Q553*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	552	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGAGCTGGAGCAGAACCAGGC	0.562										HNSCC(51;0.14)																																							0			X											38.0	38.0	38.0					X																	105153287		2015	4150	6165	105039943	SO:0001587	stop_gained	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1654C>T	X.37:g.105153287C>T	ENSP00000434830:p.Gln552*		105039943	Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	ENST00000243300.9	37		.	.	.	.	.	.	.	.	.	.	C	36	5.623787	0.96660	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	4.49	3.6	0.41247	.	0.480497	0.17763	N	0.162823	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	11.3444	0.49552	0.0:0.8131:0.1869:0.0	.	.	.	.	X	552;553	.	ENSP00000434830:Q552X	Q	+	1	0	NRK	105039943	0.979000	0.34478	0.037000	0.18230	0.017000	0.09413	1.705000	0.37867	1.208000	0.43306	0.600000	0.82982	CAG		0.562	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
TBC1D8B	54885	hgsc.bcm.edu	37	X	106064218	106064218	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:106064218A>G	ENST00000357242.5	+	3	527	c.353A>G	c.(352-354)aAa>aGa	p.K118R	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.K118R|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.K118R|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.K118R	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	118							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTACAAGGAAAAATAAGAGTA	0.338																																																	0			X											60.0	58.0	58.0					X																	106064218		2203	4297	6500	105950874	SO:0001583	missense	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.353A>G	X.37:g.106064218A>G	ENSP00000349781:p.Lys118Arg		105950874	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	A	16.28	3.078625	0.55753	.	.	ENSG00000133138	ENST00000357242;ENST00000310452;ENST00000481617;ENST00000276175;ENST00000460545	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.52980	0.1768	M	0.87269	2.87	0.80722	D	1	P;D;D	0.59357	0.685;0.985;0.961	B;P;B	0.62649	0.436;0.905;0.393	T	0.61589	-0.7032	10	0.72032	D	0.01	-16.6277	12.9925	0.58627	1.0:0.0:0.0:0.0	.	118;118;118	Q0IIM8;B9A6K6;D6RFZ2	TBC8B_HUMAN;.;.	R	118;118;118;118;20	ENSP00000349781:K118R;ENSP00000310675:K118R;ENSP00000421375:K118R;ENSP00000276175:K118R	ENSP00000276175:K118R	K	+	2	0	TBC1D8B	105950874	1.000000	0.71417	0.999000	0.59377	0.930000	0.56654	9.284000	0.95882	1.813000	0.52934	0.339000	0.21740	AAA		0.338	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752	
ZCCHC16	340595	hgsc.bcm.edu	37	X	111698393	111698393	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:111698393C>A	ENST00000340433.2	+	1	667	c.437C>A	c.(436-438)cCt>cAt	p.P146H		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	146							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.P146L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAAATCAATCCTCTGATGAAT	0.418																																																	1	Substitution - Missense(1)	ovary(1)	X											83.0	79.0	81.0					X																	111698393		2203	4300	6503	111585049	SO:0001583	missense	340595			AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.437C>A	X.37:g.111698393C>A	ENSP00000340590:p.Pro146His		111585049	B2RPG1	Missense_Mutation	SNP	ENST00000340433.2	37	CCDS35369.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.496101	0.01009	.	.	ENSG00000187823	ENST00000340433	T	0.30714	1.52	4.12	1.3	0.21679	.	1.081410	0.07229	N	0.862202	T	0.27241	0.0668	L	0.27053	0.805	0.09310	N	1	P	0.43431	0.807	P	0.47673	0.554	T	0.19386	-1.0307	10	0.59425	D	0.04	-0.3401	4.1987	0.10455	0.1566:0.5941:0.1507:0.0986	.	146	Q6ZR62	ZCH16_HUMAN	H	146	ENSP00000340590:P146H	ENSP00000340590:P146H	P	+	2	0	ZCCHC16	111585049	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.066000	0.03454	-0.073000	0.12842	-1.225000	0.01585	CCT		0.418	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308	
PRR32	100130613	hgsc.bcm.edu	37	X	125955246	125955246	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:125955246G>T	ENST00000371125.3	+	2	705	c.625G>T	c.(625-627)Gct>Tct	p.A209S		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		209																	AGGAAAGCTGGCTCATGTTTC	0.532																																																	0			X											86.0	73.0	77.0					X																	125955246		692	1591	2283	125782927	SO:0001583	missense	100130613																														ENST00000371125.3:c.625G>T	X.37:g.125955246G>T	ENSP00000360166:p.Ala209Ser		125782927		Missense_Mutation	SNP	ENST00000371125.3	37	CCDS48163.1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.222227	0.39300	.	.	ENSG00000183631	ENST00000371125	T	0.38722	1.12	4.02	1.2	0.21068	.	0.245932	0.21370	N	0.075648	T	0.40767	0.1130	L	0.34521	1.04	0.24854	N	0.99238	D	0.56035	0.974	P	0.56751	0.805	T	0.20907	-1.0261	10	0.87932	D	0	-3.0488	5.343	0.15994	0.1184:0.3999:0.4817:0.0	.	209	B1ATL7	CX064_HUMAN	S	209	ENSP00000360166:A209S	ENSP00000360166:A209S	A	+	1	0	CXorf64	125782927	1.000000	0.71417	0.777000	0.31699	0.254000	0.26022	1.155000	0.31700	0.121000	0.18284	0.600000	0.82982	GCT		0.532	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058188.1		
GPR112	139378	hgsc.bcm.edu	37	X	135427393	135427393	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:135427393C>T	ENST00000394143.1	+	6	1819	c.1528C>T	c.(1528-1530)Cca>Tca	p.P510S	GPR112_ENST00000394141.1_Missense_Mutation_p.P305S|GPR112_ENST00000412101.1_Missense_Mutation_p.P305S|GPR112_ENST00000370652.1_Missense_Mutation_p.P510S|GPR112_ENST00000287534.4_Missense_Mutation_p.P447S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	510					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTGACTCTCCCAACTAGGCT	0.423																																																	0			X											74.0	63.0	67.0					X																	135427393		2203	4300	6503	135255059	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1528C>T	X.37:g.135427393C>T	ENSP00000377699:p.Pro510Ser		135255059	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	2.111	-0.403825	0.04832	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.52057	0.72;0.72;0.68;0.76;0.68	2.3	1.41	0.22369	.	.	.	.	.	T	0.22898	0.0553	N	0.12182	0.205	0.09310	N	1	B;B;B	0.19935	0.012;0.04;0.024	B;B;B	0.15484	0.013;0.01;0.004	T	0.25152	-1.0140	9	0.10377	T	0.69	.	5.4176	0.16382	0.0:0.807:0.0:0.193	.	447;305;510	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	510;510;305;447;305	ENSP00000377699:P510S;ENSP00000359686:P510S;ENSP00000416526:P305S;ENSP00000287534:P447S;ENSP00000377697:P305S	ENSP00000287534:P447S	P	+	1	0	GPR112	135255059	0.033000	0.19621	0.015000	0.15790	0.006000	0.05464	-0.049000	0.11924	0.188000	0.20168	-0.537000	0.04273	CCA		0.423	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
MAGEC2	51438	hgsc.bcm.edu	37	X	141290856	141290856	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:141290856A>T	ENST00000247452.3	-	3	1265	c.918T>A	c.(916-918)caT>caA	p.H306Q		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	306	Interaction with TRIM28.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				cellular protein catabolic process (GO:0044257)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)			NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTTCTGAATGGGCTCTCG	0.463										HNSCC(46;0.14)																																							0			X											91.0	89.0	90.0					X																	141290856		2203	4300	6503	141118522	SO:0001583	missense	51438			AF116195	CCDS14678.1	Xq27	2009-03-25	2004-06-08	2004-06-09	ENSG00000046774	ENSG00000046774			13574	protein-coding gene	gene with protein product	"""cancer/testis antigen 10"""	300468	"""melanoma antigen, family E, 1, cancer/testis specific"""	MAGEE1		10699956	Standard	NM_016249		Approved	CT10, MAGE-C2	uc004fbu.2	Q9UBF1	OTTHUMG00000022574	ENST00000247452.3:c.918T>A	X.37:g.141290856A>T	ENSP00000354660:p.His306Gln		141118522	Q5JZ00|Q96D45|Q9P1M6|Q9P1M7	Missense_Mutation	SNP	ENST00000247452.3	37	CCDS14678.1	.	.	.	.	.	.	.	.	.	.	-	14.02	2.410788	0.42817	.	.	ENSG00000046774	ENST00000247452	T	0.04317	3.65	0.988	0.988	0.19796	.	0.915653	0.09130	U	0.844511	T	0.15696	0.0378	M	0.75150	2.29	0.19300	N	0.999977	P	0.47962	0.903	D	0.64042	0.921	T	0.16335	-1.0406	10	0.72032	D	0.01	.	3.916	0.09224	1.0:0.0:0.0:0.0	.	306	Q9UBF1	MAGC2_HUMAN	Q	306	ENSP00000354660:H306Q	ENSP00000354660:H306Q	H	-	3	2	MAGEC2	141118522	0.028000	0.19301	0.506000	0.27664	0.245000	0.25701	0.066000	0.14489	0.635000	0.30488	0.235000	0.17854	CAT		0.463	MAGEC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058611.1	NM_016249	
SLITRK4	139065	hgsc.bcm.edu	37	X	142718309	142718309	+	Missense_Mutation	SNP	C	C	T	rs143575705		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:142718309C>T	ENST00000381779.4	-	2	841	c.616G>A	c.(616-618)Gtt>Att	p.V206I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.V206I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.V206I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	206			V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			integral component of membrane (GO:0016021)		p.V206I(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAATTCAACGACACGGCCA	0.428													c|||	1	0.000264901	0.0	0.0	3775	,	,		14413	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	X							ILE/VAL,ILE/VAL,ILE/VAL	0,3835		0,0,0,1632,571	89.0	85.0	86.0		616,616,616	3.9	0.0	X	dbSNP_134	86	3,6725		0,2,1,2426,1871	yes	missense,missense,missense	SLITRK4	NM_001184749.1,NM_001184750.1,NM_173078.3	29,29,29	0,2,1,4058,2442	TT,TC,T,CC,C		0.0446,0.0,0.0284	possibly-damaging,possibly-damaging,possibly-damaging	206/838,206/838,206/838	142718309	3,10560	2203	4300	6503	142545975	SO:0001583	missense	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.616G>A	X.37:g.142718309C>T	ENSP00000371198:p.Val206Ile		142545975	Q5JXG3|Q8TCM8|Q96DL3	Missense_Mutation	SNP	ENST00000381779.4	37	CCDS14679.1	.	.	.	.	.	.	.	.	.	.	c	11.05	1.523895	0.27299	0.0	4.46E-4	ENSG00000179542	ENST00000381779;ENST00000356928;ENST00000338017	T;T;T	0.52295	0.67;0.67;0.67	5.73	3.93	0.45458	.	0.000000	0.85682	U	0.000000	T	0.46328	0.1387	N	0.20685	0.6	0.46336	D	0.998993	D	0.71674	0.998	P	0.62560	0.904	T	0.32798	-0.9893	10	0.37606	T	0.19	-5.3159	8.7621	0.34680	0.1503:0.7692:0.0:0.0805	.	206	Q8IW52	SLIK4_HUMAN	I	206	ENSP00000371198:V206I;ENSP00000349400:V206I;ENSP00000336627:V206I	ENSP00000336627:V206I	V	-	1	0	SLITRK4	142545975	0.995000	0.38212	0.005000	0.12908	0.217000	0.24651	3.349000	0.52217	0.549000	0.28973	0.597000	0.82753	GTT		0.428	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																																	0			X																																								148576546	SO:0001628	intergenic_variant	4110																															Unknown.37:g.0C>T			148576546		Missense_Mutation	SNP		37																																																																																				0	0								
EMD	2010	hgsc.bcm.edu	37	X	153608713	153608713	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chrX:153608713G>A	ENST00000369842.4	+	4	673	c.385G>A	c.(385-387)Gct>Act	p.A129T	EMD_ENST00000369835.3_Missense_Mutation_p.A94T|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	129	Interaction with F-actin. {ECO:0000305}.				cellular response to growth factor stimulus (GO:0071363)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of protein export from nucleus (GO:0046827)|regulation of canonical Wnt signaling pathway (GO:0060828)|skeletal muscle cell differentiation (GO:0035914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)	actin binding (GO:0003779)|beta-tubulin binding (GO:0048487)			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGCTGACGCTTTCCATCA	0.592																																																	0			X											51.0	47.0	49.0					X																	153608713		2203	4299	6502	153261907	SO:0001583	missense	2010			X82434	CCDS14745.1	Xq27.3-q28	2014-09-17	2008-07-29		ENSG00000102119	ENSG00000102119			3331	protein-coding gene	gene with protein product	"""LEM domain containing 5"""	300384	"""Emery-Dreifuss muscular dystrophy"""				Standard	NM_000117		Approved	STA, LEMD5	uc004fkl.3	P50402	OTTHUMG00000033186	ENST00000369842.4:c.385G>A	X.37:g.153608713G>A	ENSP00000358857:p.Ala129Thr		153261907	Q6FI02	Missense_Mutation	SNP	ENST00000369842.4	37	CCDS14745.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.985501	0.00443	.	.	ENSG00000102119	ENST00000369842;ENST00000369835	D;D	0.85702	-1.59;-2.02	4.01	0.223	0.15292	.	0.609355	0.15514	N	0.258388	T	0.54759	0.1878	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50996	-0.8761	10	0.02654	T	1	-25.3034	2.9076	0.05726	0.5014:0.2348:0.2638:0.0	.	129	P50402	EMD_HUMAN	T	129;94	ENSP00000358857:A129T;ENSP00000358850:A94T	ENSP00000358850:A94T	A	+	1	0	EMD	153261907	0.000000	0.05858	0.004000	0.12327	0.036000	0.12997	0.170000	0.16663	0.077000	0.16863	-0.536000	0.04276	GCT		0.592	EMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080921.1		
CRIPAK	285464	hgsc.bcm.edu	37	4	1388631	1388631	+	Missense_Mutation	SNP	C	C	G	rs200849975	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:1388631C>G	ENST00000324803.4	+	1	3292	c.332C>G	c.(331-333)cCa>cGa	p.P111R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	111					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P111R(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTCACGTGCCCATGTGGAGTG	0.667													N|||	218	0.0435304	0.0287	0.0548	5008	,	,		18151	0.006		0.0487	False		,,,				2504	0.089																1	Substitution - Missense(1)	skin(1)	4											193.0	146.0	162.0					4																	1388631		2203	4299	6502	1378631	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.332C>G	4.37:g.1388631C>G	ENSP00000323978:p.Pro111Arg		1378631	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.610	0.297336	0.10622	.	.	ENSG00000179979	ENST00000324803	T	0.22336	1.96	0.948	-0.0113	0.13993	Post-SET domain (1);	.	.	.	.	T	0.07548	0.0190	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39820	-0.9595	9	0.12103	T	0.63	.	2.6024	0.04869	0.0:0.4564:0.3174:0.2262	.	111	Q8N1N5	CRPAK_HUMAN	R	111	ENSP00000323978:P111R	ENSP00000323978:P111R	P	+	2	0	CRIPAK	1378631	0.005000	0.15991	0.001000	0.08648	0.013000	0.08279	-1.037000	0.03557	-0.011000	0.14247	-1.737000	0.00689	CCA		0.667	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388635	1388635	+	Silent	SNP	T	T	C	rs74518227	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:1388635T>C	ENST00000324803.4	+	1	3296	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	112					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.C112C(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCCATGTGGAGTGCCCG	0.672													N|||	258	0.0515176	0.0348	0.0548	5008	,	,		16946	0.0069		0.0507	False		,,,				2504	0.1186																1	Substitution - coding silent(1)	prostate(1)	4											189.0	145.0	160.0					4																	1388635		2203	4299	6502	1378635	SO:0001819	synonymous_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.336T>C	4.37:g.1388635T>C			1378635	Q8NB03	Silent	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	-	5.811	0.333996	0.11013	.	.	ENSG00000179979	ENST00000382944	.	.	.	0.948	-1.08	0.09936	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.27123	-1.0083	5	0.25106	T	0.35	.	4.049	0.09786	0.3111:0.0:0.0:0.6889	.	.	.	.	R	96	.	ENSP00000372402:W96R	W	+	1	0	CRIPAK	1378635	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-1.127000	0.03251	-0.202000	0.10268	0.102000	0.15555	TGG		0.672	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CC2D2A	57545	hgsc.bcm.edu	37	4	15517531	15517531	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:15517531G>A	ENST00000503292.1	+	11	1101	c.921G>A	c.(919-921)agG>agA	p.R307R	CC2D2A_ENST00000513811.1_3'UTR|CC2D2A_ENST00000413206.1_Silent_p.R307R|CC2D2A_ENST00000424120.1_Silent_p.R307R|CC2D2A_ENST00000389652.5_Silent_p.R258R	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	307					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TACAGCCCAGGTTCCTGGAAG	0.428																																																	0			4											43.0	41.0	42.0					4																	15517531		1870	4087	5957	15126629	SO:0001819	synonymous_variant	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.921G>A	4.37:g.15517531G>A			15126629	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Silent	SNP	ENST00000503292.1	37	CCDS47026.1																																																																																				0.428	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
RHOH	399	hgsc.bcm.edu	37	4	40245229	40245229	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:40245229C>A	ENST00000381799.5	+	3	947	c.223C>A	c.(223-225)Cag>Aag	p.Q75K	RHOH_ENST00000505618.1_Missense_Mutation_p.Q75K	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	75	Interaction with ZAP70. {ECO:0000250}.				mast cell activation (GO:0045576)|negative regulation of catalytic activity (GO:0043086)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of phosphorylation (GO:0042326)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase inhibitor activity (GO:0005095)|kinase inhibitor activity (GO:0019210)|Rho GTPase binding (GO:0017048)			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						GTCCTACCAGCAGGCAGACGT	0.552																																																	0			4											90.0	81.0	84.0					4																	40245229		2203	4300	6503	39921624	SO:0001583	missense	399			Z35227	CCDS3458.1	4p13	2014-09-17	2012-02-27	2004-03-24	ENSG00000168421	ENSG00000168421			686	protein-coding gene	gene with protein product		602037	"""ras homolog gene family, member H"""	ARHH		7784061	Standard	NM_001278359		Approved	RhoH, TTF	uc003guz.2	Q15669	OTTHUMG00000099373	ENST00000381799.5:c.223C>A	4.37:g.40245229C>A	ENSP00000371219:p.Gln75Lys		39921624		Missense_Mutation	SNP	ENST00000381799.5	37	CCDS3458.1	.	.	.	.	.	.	.	.	.	.	c	16.39	3.110796	0.56398	.	.	ENSG00000168421	ENST00000505618;ENST00000507851;ENST00000503941;ENST00000381799	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.74	5.74	0.90152	Small GTP-binding protein domain (1);	0.120752	0.64402	D	0.000018	T	0.69043	0.3067	L	0.51422	1.61	0.50171	D	0.999858	B	0.33000	0.393	B	0.28916	0.096	T	0.71520	-0.4568	10	0.87932	D	0	.	14.7331	0.69397	0.1447:0.8553:0.0:0.0	.	75	Q15669	RHOH_HUMAN	K	75	ENSP00000425010:Q75K;ENSP00000423384:Q75K;ENSP00000426439:Q75K;ENSP00000371219:Q75K	ENSP00000371219:Q75K	Q	+	1	0	RHOH	39921624	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.467000	0.60155	2.708000	0.92522	0.585000	0.79938	CAG		0.552	RHOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216820.3	NM_004310	
KIT	3815	hgsc.bcm.edu	37	4	55599327	55599327	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:55599327A>G	ENST00000288135.5	+	17	2550	c.2453A>G	c.(2452-2454)aAg>aGg	p.K818R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	818	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K818R(5)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGACATCAAGAATGATTCT	0.378		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	5	Substitution - Missense(5)	soft_tissue(4)|genital_tract(1)	4											145.0	147.0	147.0					4																	55599327		2203	4300	6503	55294084	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2453A>G	4.37:g.55599327A>G	ENSP00000288135:p.Lys818Arg		55294084	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	A	7.508	0.654128	0.14580	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.82893	-1.66;-1.66	5.62	4.45	0.53987	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.196826	0.35436	N	0.003206	T	0.64382	0.2593	N	0.16743	0.435	0.25514	N	0.98744	B;B	0.06786	0.0;0.001	B;B	0.13407	0.001;0.009	T	0.47923	-0.9079	10	0.07644	T	0.81	.	6.0185	0.19616	0.6796:0.0:0.3204:0.0	.	814;818	P10721-2;P10721	.;KIT_HUMAN	R	818;814	ENSP00000288135:K818R;ENSP00000390987:K814R	ENSP00000288135:K818R	K	+	2	0	KIT	55294084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.953000	0.29162	0.983000	0.38602	0.477000	0.44152	AAG		0.378	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
KIT	3815	hgsc.bcm.edu	37	4	55599334	55599334	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:55599334T>C	ENST00000288135.5	+	17	2557	c.2460T>C	c.(2458-2460)gaT>gaC	p.D820D		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	820	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in mast cell disease; systemic). {ECO:0000269|PubMed:9029028}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D820E(3)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAGAATGATTCTAATTATG	0.388		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	3	Substitution - Missense(3)	soft_tissue(2)|thymus(1)	4											147.0	149.0	149.0					4																	55599334		2203	4300	6503	55294091	SO:0001819	synonymous_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2460T>C	4.37:g.55599334T>C			55294091	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Silent	SNP	ENST00000288135.5	37	CCDS3496.1																																																																																				0.388	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
PARM1	25849	hgsc.bcm.edu	37	4	75937816	75937816	+	Silent	SNP	T	T	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:75937816T>G	ENST00000307428.7	+	2	437	c.225T>G	c.(223-225)tcT>tcG	p.S75S	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	75					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCCAACATCTCTGCTTCCTA	0.527																																																	0			4											143.0	137.0	139.0					4																	75937816		2074	4224	6298	76156840	SO:0001819	synonymous_variant	0			AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.225T>G	4.37:g.75937816T>G			76156840	B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	CCDS47077.1																																																																																				0.527	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393	
INTU	27152	hgsc.bcm.edu	37	4	128626827	128626827	+	Missense_Mutation	SNP	T	T	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:128626827T>G	ENST00000335251.6	+	11	1751	c.1648T>G	c.(1648-1650)Tta>Gta	p.L550V	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	550					cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CCTGCTGCCTTTAGCAGCAAA	0.428																																																	0			4											181.0	167.0	171.0					4																	128626827		2203	4300	6503	128846277	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.1648T>G	4.37:g.128626827T>G	ENSP00000334003:p.Leu550Val		128846277	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	T	16.25	3.069008	0.55539	.	.	ENSG00000164066	ENST00000335251;ENST00000506283	D;T	0.82619	-1.63;1.37	5.36	0.0314	0.14171	.	0.000000	0.64402	D	0.000005	D	0.87414	0.6171	M	0.66939	2.045	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.85078	0.0944	10	0.46703	T	0.11	-6.9436	10.6194	0.45470	0.0:0.3815:0.0:0.6185	.	550	Q9ULD6	PDZD6_HUMAN	V	550;64	ENSP00000334003:L550V;ENSP00000426171:L64V	ENSP00000334003:L550V	L	+	1	2	INTU	128846277	0.989000	0.36119	0.998000	0.56505	0.689000	0.40095	1.985000	0.40668	0.251000	0.21505	0.383000	0.25322	TTA		0.428	INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
FBXW7	55294	hgsc.bcm.edu	37	4	153251905	153251905	+	Silent	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:153251905T>C	ENST00000281708.4	-	7	2330	c.1101A>G	c.(1099-1101)cgA>cgG	p.R367R	FBXW7_ENST00000603841.1_Silent_p.R367R|FBXW7_ENST00000393956.3_Silent_p.R191R|FBXW7_ENST00000263981.5_Silent_p.R287R|FBXW7_ENST00000603548.1_Silent_p.R367R|FBXW7_ENST00000296555.5_Silent_p.R249R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	367					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)				TGAGTTCTCCTCGCCTCCAGT	0.393			"""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											331.0	284.0	300.0					4																	153251905		2203	4300	6503	153471355	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.1101A>G	4.37:g.153251905T>C			153471355	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				0.393	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
GALNT7	51809	hgsc.bcm.edu	37	4	174169255	174169255	+	Missense_Mutation	SNP	C	C	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:174169255C>G	ENST00000265000.4	+	2	334	c.251C>G	c.(250-252)tCt>tGt	p.S84C	GALNT7_ENST00000512285.1_Missense_Mutation_p.S84C	NM_017423.2	NP_059119.2	Q86SF2	GALT7_HUMAN	polypeptide N-acetylgalactosaminyltransferase 7	84					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		GACTTAGAGTCTATTAGAAGA	0.468																																																	0			4											76.0	69.0	71.0					4																	174169255		2203	4300	6503	174405830	SO:0001583	missense	117248			AJ002744	CCDS3815.1	4q31.1	2014-03-13	2014-03-13		ENSG00000109586	ENSG00000109586		"""Glycosyltransferase family 2 domain containing"""	4129	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 7"""	605005	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7)"""			10544240	Standard	NM_017423		Approved	GALNAC-T7	uc003isz.4	Q86SF2	OTTHUMG00000160817	ENST00000265000.4:c.251C>G	4.37:g.174169255C>G	ENSP00000265000:p.Ser84Cys		174405830	B3KQU3|Q7Z5W7|Q9UJ28	Missense_Mutation	SNP	ENST00000265000.4	37	CCDS3815.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494908	0.85069	.	.	ENSG00000109586	ENST00000265000;ENST00000512285	T;T	0.59224	0.28;1.2	5.7	5.7	0.88788	.	0.382752	0.23084	U	0.052101	T	0.66567	0.2802	L	0.55481	1.735	0.80722	D	1	D	0.58620	0.983	P	0.51487	0.671	T	0.68907	-0.5285	10	0.72032	D	0.01	.	19.8411	0.96685	0.0:1.0:0.0:0.0	.	84	Q86SF2	GALT7_HUMAN	C	84	ENSP00000265000:S84C;ENSP00000427050:S84C	ENSP00000265000:S84C	S	+	2	0	GALNT7	174405830	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.683000	0.91414	0.655000	0.94253	TCT		0.468	GALNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362456.2	NM_017423	
TUBB7P	56604	hgsc.bcm.edu	37	4	190905629	190905629	+	IGR	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr4:190905629G>A								FRG1 (21270 upstream) : RNA5SP174 (30663 downstream)																							ACGTTGATGCGCTCCAGCTGC	0.692																																																	0			4											7.0	9.0	9.0					4																	190905629		1567	3407	4974	191142623	SO:0001628	intergenic_variant	56604																															4.37:g.190905629G>A			191142623		Missense_Mutation	SNP		37																																																																																				0	0.692								
HEATR5B	54497	hgsc.bcm.edu	37	2	37230722	37230722	+	Silent	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr2:37230722A>G	ENST00000233099.5	-	31	5108	c.5013T>C	c.(5011-5013)gcT>gcC	p.A1671A	HEATR5B_ENST00000354531.2_Silent_p.A1671A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1671						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATCCTGAGCAGCTCTTACTA	0.358																																																	0			2											86.0	86.0	86.0					2																	37230722		2203	4300	6503	37084226	SO:0001819	synonymous_variant	54497			AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5013T>C	2.37:g.37230722A>G			37084226	B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	CCDS33181.1																																																																																				0.358	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024	
MAP4K3	8491	hgsc.bcm.edu	37	2	39494357	39494357	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr2:39494357T>C	ENST00000263881.3	-	27	2329	c.2005A>G	c.(2005-2007)Acc>Gcc	p.T669A	MAP4K3_ENST00000341681.5_Missense_Mutation_p.T648A|MAP4K3_ENST00000536018.1_Missense_Mutation_p.T222A|MAP4K3_ENST00000437545.1_Missense_Mutation_p.T585A	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	669	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.		T -> S (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)		ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.T669S(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CACCATTTGGTTTCAGGGATT	0.353																																																	1	Substitution - Missense(1)	lung(1)	2											127.0	128.0	128.0					2																	39494357		2203	4300	6503	39347861	SO:0001583	missense	8491			AF000145	CCDS1803.1, CCDS58707.1	2p22.3	2011-06-09			ENSG00000011566	ENSG00000011566		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6865	protein-coding gene	gene with protein product		604921		RAB8IPL1		9275185	Standard	NM_003618		Approved	GLK, MAPKKKK3	uc002rro.4	Q8IVH8	OTTHUMG00000102127	ENST00000263881.3:c.2005A>G	2.37:g.39494357T>C	ENSP00000263881:p.Thr669Ala		39347861	Q6IQ39|Q8IVH7|Q9UDM5|Q9Y6R5	Missense_Mutation	SNP	ENST00000263881.3	37	CCDS1803.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.708638	0.89018	.	.	ENSG00000011566	ENST00000263881;ENST00000437545;ENST00000341681;ENST00000536018	T;T;T;T	0.06068	3.35;3.35;3.35;3.35	5.42	5.42	0.78866	Citron-like (3);	0.000000	0.85682	D	0.000000	T	0.30634	0.0771	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.98;0.999	T	0.12993	-1.0526	10	0.87932	D	0	.	15.7745	0.78204	0.0:0.0:0.0:1.0	.	648;669	Q8IVH8-3;Q8IVH8	.;M4K3_HUMAN	A	669;585;648;222	ENSP00000263881:T669A;ENSP00000416958:T585A;ENSP00000345434:T648A;ENSP00000440580:T222A	ENSP00000263881:T669A	T	-	1	0	MAP4K3	39347861	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.565000	0.82337	2.174000	0.68829	0.533000	0.62120	ACC		0.353	MAP4K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219966.2	NM_003618	
Unknown	0	hgsc.bcm.edu	37	2	98154654	98154654	+	IGR	SNP	G	G	A	rs369666439	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr2:98154654G>A								AC159540.1 (63605 upstream) : ANKRD36B (9373 downstream)																							CCCACCGCCCGTTATTCTTGT	0.348													.|||	3	0.000599042	0.0008	0.0	5008	,	,		13444	0.002		0.0	False		,,,				2504	0.0																0			2						A	MET/THR	2,3008		1,0,1504	35.0	24.0	28.0		2066	-1.1	0.0	2		28	0,5340		0,0,2670	no	missense	ANKRD36B	NM_025190.3	81	1,0,4174	AA,AG,GG		0.0,0.0664,0.024	benign	689/1354	98154654	2,8348	1505	2670	4175	97521086	SO:0001628	intergenic_variant	57730																															2.37:g.98154654G>A			97521086		Missense_Mutation	SNP		37																																																																																				0	0.348								
TTN	7273	hgsc.bcm.edu	37	2	179476363	179476363	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr2:179476363C>A	ENST00000591111.1	-	219	45894	c.45670G>T	c.(45670-45672)Ggg>Tgg	p.G15224W	TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14297W|TTN_ENST00000460472.2_Missense_Mutation_p.G7800W|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G16865W|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G7925W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G7992W			Q8WZ42	TITIN_HUMAN	titin	15224	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G14297W(2)|p.G7992W(1)|p.G7925W(1)|p.G7800W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTCTCCCAGCATCAGTC	0.438																																																	5	Substitution - Missense(5)	lung(5)	2											98.0	93.0	94.0					2																	179476363		1901	4128	6029	179184608	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45670G>T	2.37:g.179476363C>A	ENSP00000465570:p.Gly15224Trp		179184608	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	8.925	0.961963	0.18583	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67841	0.2936	L	0.46947	1.48	0.35457	D	0.796172	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.71870	0.975;0.975;0.975;0.975	T	0.75139	-0.3423	9	0.87932	D	0	.	11.0573	0.47927	0.0:0.8635:0.0:0.1365	.	7800;7925;7992;15224	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	W	14297;7800;7992;7925;7800	ENSP00000343764:G14297W;ENSP00000434586:G7800W;ENSP00000340554:G7992W;ENSP00000352154:G7925W	ENSP00000340554:G7992W	G	-	1	0	TTN	179184608	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.831000	0.55776	2.941000	0.99782	0.655000	0.94253	GGG		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL3A1	1281	hgsc.bcm.edu	37	2	189868844	189868844	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr2:189868844G>T	ENST00000304636.3	+	39	2968	c.2798G>T	c.(2797-2799)gGa>gTa	p.G933V	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	933	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGAGAGAAGGGATCGCCTGGT	0.493																																																	0			2											32.0	38.0	36.0					2																	189868844		2203	4300	6503	189577089	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2798G>T	2.37:g.189868844G>T	ENSP00000304408:p.Gly933Val		189577089	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966030	0.74131	.	.	ENSG00000168542	ENST00000304636	D	0.99637	-6.29	5.63	5.63	0.86233	.	0.000000	0.50627	D	0.000108	D	0.99661	0.9874	H	0.95982	3.75	0.80722	D	1	P	0.50528	0.936	P	0.52189	0.692	D	0.97988	1.0353	10	0.87932	D	0	.	19.6914	0.96002	0.0:0.0:1.0:0.0	.	933	P02461	CO3A1_HUMAN	V	933	ENSP00000304408:G933V	ENSP00000304408:G933V	G	+	2	0	COL3A1	189577089	1.000000	0.71417	0.973000	0.42090	0.610000	0.37248	9.750000	0.98875	2.659000	0.90383	0.643000	0.83706	GGA		0.493	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090	
TNS1	7145	hgsc.bcm.edu	37	2	218713689	218713689	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr2:218713689G>A	ENST00000171887.4	-	17	1628	c.1176C>T	c.(1174-1176)acC>acT	p.T392T	TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Silent_p.T392T|TNS1_ENST00000419504.1_Silent_p.T392T	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	392					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CGTGGTTGGGGGTGGCCGACA	0.612																																																	0			2											156.0	148.0	150.0					2																	218713689		2203	4300	6503	218421934	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1176C>T	2.37:g.218713689G>A			218421934	Q4ZG71|Q6IPI5	Silent	SNP	ENST00000171887.4	37	CCDS2407.1																																																																																				0.612	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648	
JAK2	3717	hgsc.bcm.edu	37	9	5070009	5070009	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:5070009A>G	ENST00000381652.3	+	12	2092	c.1598A>G	c.(1597-1599)aAc>aGc	p.N533S	JAK2_ENST00000539801.1_Missense_Mutation_p.N533S|JAK2_ENST00000544510.1_Missense_Mutation_p.N384S	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	533					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|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 activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	ACTCATATGAACCAAATGGTG	0.313		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	0			9											86.0	81.0	83.0					9																	5070009		2203	4300	6503	5060009	SO:0001583	missense	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1598A>G	9.37:g.5070009A>G	ENSP00000371067:p.Asn533Ser		5060009	O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	A	0.068	-1.207673	0.01568	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.32988	1.43;1.43;1.43	4.93	3.79	0.43588	Protein kinase-like domain (1);	0.174277	0.64402	N	0.000010	T	0.07908	0.0198	N	0.00841	-1.15	0.44555	D	0.99751	B	0.02656	0.0	B	0.06405	0.002	T	0.26018	-1.0115	10	0.02654	T	1	-15.4682	8.673	0.34163	0.8376:0.0:0.1624:0.0	.	533	O60674	JAK2_HUMAN	S	533;533;384	ENSP00000440387:N533S;ENSP00000371067:N533S;ENSP00000443103:N384S	ENSP00000371067:N533S	N	+	2	0	JAK2	5060009	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	3.770000	0.55310	0.724000	0.32296	-0.475000	0.04921	AAC		0.313	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
PTPRD	5789	hgsc.bcm.edu	37	9	8486143	8486143	+	Missense_Mutation	SNP	C	C	T	rs370631792	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:8486143C>T	ENST00000381196.4	-	25	3217	c.2674G>A	c.(2674-2676)Gtc>Atc	p.V892I	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.V892I|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.V879I|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.V870I|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.V892I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	892	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AGCCTGAAGACGTATGATGCT	0.453										TSP Lung(15;0.13)			C|||	5	0.000998403	0.0	0.0	5008	,	,		20950	0.0		0.001	False		,,,				2504	0.0041																0			9						C	,,ILE/VAL,,,	2,4404	4.2+/-10.8	0,2,2201	103.0	97.0	99.0		,,2674,,,	-0.2	0.0	9		99	2,8598	2.2+/-6.3	0,2,4298	no	intron,intron,missense,intron,intron,intron	PTPRD	NM_001040712.2,NM_001171025.1,NM_002839.3,NM_130391.3,NM_130392.3,NM_130393.3	,,29,,,	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	,,benign,,,	,,892/1913,,,	8486143	4,13002	2203	4300	6503	8476143	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2674G>A	9.37:g.8486143C>T	ENSP00000370593:p.Val892Ile		8476143	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.363739	0.01235	4.54E-4	2.33E-4	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38	5.68	-0.187	0.13268	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.341392	0.32852	N	0.005561	T	0.29620	0.0739	N	0.14661	0.345	0.29215	N	0.87431	B;B;B	0.20550	0.046;0.008;0.006	B;B;B	0.15870	0.013;0.003;0.014	T	0.17653	-1.0362	9	.	.	.	.	11.1214	0.48293	0.0:0.3346:0.0:0.6654	.	879;892;892	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	892;892;879;870;892	ENSP00000370593:V892I;ENSP00000348812:V892I;ENSP00000353187:V879I;ENSP00000351293:V870I;ENSP00000438164:V892I	.	V	-	1	0	PTPRD	8476143	0.001000	0.12720	0.032000	0.17829	0.364000	0.29643	-0.042000	0.12063	-0.245000	0.09625	-0.119000	0.15052	GTC		0.453	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
TAF1L	138474	hgsc.bcm.edu	37	9	32633293	32633293	+	Missense_Mutation	SNP	A	A	G	rs113733449		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:32633293A>G	ENST00000242310.4	-	1	2374	c.2285T>C	c.(2284-2286)cTt>cCt	p.L762P	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	762			L -> I (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTTGTTCTCAAGTGCCTGCAG	0.428																																																	0			9											189.0	185.0	186.0					9																	32633293		2203	4300	6503	32623293	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.2285T>C	9.37:g.32633293A>G	ENSP00000418379:p.Leu762Pro		32623293	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	A	5.458	0.269652	0.10349	.	.	ENSG00000122728	ENST00000242310	T	0.27104	1.69	1.19	1.19	0.21007	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.175861	0.64402	D	0.000012	T	0.44008	0.1273	M	0.87269	2.87	0.47698	D	0.999499	B	0.33171	0.4	P	0.49361	0.608	T	0.42682	-0.9437	10	0.87932	D	0	.	6.1457	0.20285	1.0:0.0:0.0:0.0	.	762	Q8IZX4	TAF1L_HUMAN	P	762	ENSP00000418379:L762P	ENSP00000418379:L762P	L	-	2	0	TAF1L	32623293	1.000000	0.71417	0.943000	0.38184	0.241000	0.25554	5.824000	0.69279	0.530000	0.28619	0.164000	0.16699	CTT		0.428	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
MAMDC2	256691	hgsc.bcm.edu	37	9	72833433	72833433	+	Missense_Mutation	SNP	T	T	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:72833433T>A	ENST00000377182.4	+	12	2449	c.1832T>A	c.(1831-1833)cTc>cAc	p.L611H	SMC5-AS1_ENST00000594708.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	611	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAAGAGTCCCTCTTATGGAGG	0.468																																																	0			9											81.0	80.0	81.0					9																	72833433		2203	4300	6503	72023253	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1832T>A	9.37:g.72833433T>A	ENSP00000366387:p.Leu611His		72023253	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	T	14.85	2.657057	0.47467	.	.	ENSG00000165072	ENST00000377182	T	0.02369	4.32	5.21	4.07	0.47477	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.201385	0.41396	D	0.000897	T	0.11879	0.0289	M	0.75777	2.31	0.25358	N	0.988803	D	0.89917	1.0	D	0.79108	0.992	T	0.04153	-1.0973	10	0.42905	T	0.14	-7.4361	8.9237	0.35628	0.0:0.1655:0.0:0.8345	.	611	Q7Z304	MAMC2_HUMAN	H	611	ENSP00000366387:L611H	ENSP00000366387:L611H	L	+	2	0	MAMDC2	72023253	1.000000	0.71417	0.004000	0.12327	0.500000	0.33767	5.891000	0.69782	0.931000	0.37242	0.477000	0.44152	CTC		0.468	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267	
SPATA31E1	286234	hgsc.bcm.edu	37	9	90500813	90500813	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:90500813C>T	ENST00000325643.5	+	4	1477	c.1411C>T	c.(1411-1413)Ctg>Ttg	p.L471L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	471					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CTCTGTACCACTGGATAAAGC	0.582																																																	0			9											171.0	176.0	174.0					9																	90500813		2203	4300	6503	89690633	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1411C>T	9.37:g.90500813C>T			89690633	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	CCDS6676.1																																																																																				0.582	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
FAM120A	23196	hgsc.bcm.edu	37	9	96259756	96259756	+	Missense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:96259756C>T	ENST00000277165.6	+	4	1002	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	FAM120A_ENST00000333936.5_Missense_Mutation_p.R270W|FAM120A_ENST00000375389.3_Missense_Mutation_p.R270W|FAM120A_ENST00000340893.4_Missense_Mutation_p.R270W	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	270						cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCTCAGGTCCGGGCCCACCA	0.507																																																	0			9											153.0	132.0	139.0					9																	96259756		2203	4300	6503	95299577	SO:0001583	missense	23196			AF214737	CCDS6706.1, CCDS75859.1	9q22.31	2013-03-08	2006-07-04	2006-07-04	ENSG00000048828	ENSG00000048828			13247	protein-coding gene	gene with protein product	"""DNA polymerase-transactivated protein 1"", ""oxidative stess-associated Src activator"""	612265	"""chromosome 9 open reading frame 10"""	C9orf10		14585507	Standard	NM_001286722		Approved	KIAA0183, DNAPTP1, OSSA	uc004atw.3	Q9NZB2	OTTHUMG00000020252	ENST00000277165.6:c.808C>T	9.37:g.96259756C>T	ENSP00000277165:p.Arg270Trp		95299577	A6NGU0|C4AMC6|O60649|Q14688|Q4VXF4|Q4VXF5|Q4VXG2|Q86V69|Q96I21|Q9NZB1	Missense_Mutation	SNP	ENST00000277165.6	37	CCDS6706.1	.	.	.	.	.	.	.	.	.	.	C	31	5.095524	0.94197	.	.	ENSG00000048828	ENST00000375389;ENST00000277165;ENST00000333936;ENST00000340893	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	4.84	4.84	0.62591	.	0.112168	0.39083	N	0.001464	T	0.70971	0.3285	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;0.994;0.996;1.0	T	0.74067	-0.3784	10	0.72032	D	0.01	-14.1653	18.1399	0.89636	0.0:1.0:0.0:0.0	.	270;270;270;270	Q9NZB2-6;Q9NZB2-5;Q9NZB2;Q9NZB2-2	.;.;F120A_HUMAN;.	W	270	ENSP00000364538:R270W;ENSP00000277165:R270W;ENSP00000334918:R270W;ENSP00000344698:R270W	ENSP00000277165:R270W	R	+	1	2	FAM120A	95299577	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.535000	0.82014	2.509000	0.84616	0.563000	0.77884	CGG		0.507	FAM120A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053160.2	NM_014612	
ABL1	25	hgsc.bcm.edu	37	9	133748390	133748390	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:133748390A>G	ENST00000318560.5	+	6	1432	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	351	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CTCGTCAGCCATGGAGTACCT	0.602			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0			9											62.0	50.0	54.0					9																	133748390		2203	4300	6503	132738211	SO:0001583	missense	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1051A>G	9.37:g.133748390A>G	ENSP00000323315:p.Met351Val		132738211	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Missense_Mutation	SNP	ENST00000318560.5	37	CCDS35166.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.776868	0.90195	.	.	ENSG00000097007	ENST00000444970;ENST00000372348;ENST00000318560	T;T	0.61859	0.07;0.07	5.74	5.74	0.90152	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76765	0.4033	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79855	-0.1627	10	0.87932	D	0	.	15.5232	0.75881	1.0:0.0:0.0:0.0	.	351;388	P00519;Q59FK4	ABL1_HUMAN;.	V	166;370;351	ENSP00000361423:M370V;ENSP00000323315:M351V	ENSP00000323315:M351V	M	+	1	0	ABL1	132738211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.317000	0.78254	0.460000	0.39030	ATG		0.602	ABL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054684.1	NM_007313	
ABO	28	hgsc.bcm.edu	37	9	136131338	136131338	+	RNA	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr9:136131338C>T	ENST00000453660.2	-	0	790				RP11-430N14.4_ENST00000606717.1_RNA			P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation (GO:0006486)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosylgalactoside 3-alpha-galactosyltransferase activity (GO:0004381)|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity (GO:0004380)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGAAATCGCCCTCGTCCTTGG	0.677																																																	0			9											18.0	21.0	20.0					9																	136131338		1963	4121	6084	135121159			28			AF134415		9q34.2	2014-07-19			ENSG00000175164	ENSG00000175164	2.4.1.40, 2.4.1.37	"""Blood group antigens"", ""Glycosyltransferase family 6 domain containing"""	79	protein-coding gene	gene with protein product		110300				184030	Standard	NM_020469		Approved	A3GALNT, A3GALT1	uc004cda.1	P16442	OTTHUMG00000020872		9.37:g.136131338C>T			135121159	B0JDB9|O14758|Q14490|Q53I57|Q6ISD4|Q6KFZ2|Q70V27|Q99484|Q99485|Q9NY01|Q9UQ68|Q9UQ69	Missense_Mutation	SNP	ENST00000453660.2	37																																																																																					0.677	ABO-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000054907.4	NM_020469	
SACS	26278	hgsc.bcm.edu	37	13	23908582	23908582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr13:23908582C>A	ENST00000382292.3	-	9	9706	c.9433G>T	c.(9433-9435)Gaa>Taa	p.E3145*	SACS_ENST00000382298.3_Nonsense_Mutation_p.E3145*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E2395*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3145					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATCTCATTTTCTTCTGCATCT	0.363																																																	0			13											38.0	36.0	37.0					13																	23908582		2200	4298	6498	22806582	SO:0001587	stop_gained	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9433G>T	13.37:g.23908582C>A	ENSP00000371729:p.Glu3145*		22806582	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	58	30.201827	0.99977	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.75	5.75	0.90469	.	0.143577	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.9379	0.97147	0.0:1.0:0.0:0.0	.	.	.	.	X	3145;2395;3145	.	ENSP00000371729:E3145X	E	-	1	0	SACS	22806582	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.710000	0.92621	0.555000	0.69702	GAA		0.363	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	hgsc.bcm.edu	37	13	23908918	23908918	+	Missense_Mutation	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr13:23908918C>A	ENST00000382292.3	-	9	9370	c.9097G>T	c.(9097-9099)Gat>Tat	p.D3033Y	SACS_ENST00000382298.3_Missense_Mutation_p.D3033Y|SACS_ENST00000402364.1_Missense_Mutation_p.D2283Y			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3033					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTAATTCATCCTGTAGTAAA	0.328																																																	0			13											95.0	95.0	95.0					13																	23908918		2203	4299	6502	22806918	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9097G>T	13.37:g.23908918C>A	ENSP00000371729:p.Asp3033Tyr		22806918	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892381	0.72524	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.88124	-2.21;-2.34;-2.21	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.85039	0.5606	L	0.43152	1.355	0.54753	D	0.999989	P	0.42692	0.787	B	0.40134	0.32	D	0.86086	0.1547	10	0.56958	D	0.05	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	3033	Q9NZJ4	SACS_HUMAN	Y	3033;2283;3033	ENSP00000371729:D3033Y;ENSP00000385844:D2283Y;ENSP00000371735:D3033Y	ENSP00000371729:D3033Y	D	-	1	0	SACS	22806918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.653000	0.90120	0.555000	0.69702	GAT		0.328	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
SACS	26278	hgsc.bcm.edu	37	13	23908973	23908973	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr13:23908973C>T	ENST00000382292.3	-	9	9315	c.9042G>A	c.(9040-9042)tgG>tgA	p.W3014*	SACS_ENST00000382298.3_Nonsense_Mutation_p.W3014*|SACS_ENST00000402364.1_Nonsense_Mutation_p.W2264*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3014					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACATATTGATCCAAGTAATTA	0.343																																																	0			13											83.0	86.0	85.0					13																	23908973		2203	4299	6502	22806973	SO:0001587	stop_gained	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.9042G>A	13.37:g.23908973C>T	ENSP00000371729:p.Trp3014*		22806973	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	C	57	29.466346	0.99975	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	.	.	.	X	3014;2264;3014	.	ENSP00000371729:W3014X	W	-	3	0	SACS	22806973	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.487000	0.81328	2.653000	0.90120	0.555000	0.69702	TGG		0.343	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
BRCA2	675	hgsc.bcm.edu	37	13	32937372	32937372	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr13:32937372G>T	ENST00000380152.3	+	18	8266	c.8033G>T	c.(8032-8034)aGg>aTg	p.R2678M	BRCA2_ENST00000544455.1_Missense_Mutation_p.R2678M			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2678					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ATAATGGAAAGGGATGACACA	0.333			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13	GRCh37	CI063649	BRCA2	I							80.0	76.0	77.0					13																	32937372		2203	4300	6503	31835372	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8033G>T	13.37:g.32937372G>T	ENSP00000369497:p.Arg2678Met		31835372	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405375	0.62288	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	D;D	0.81659	-1.52;-1.52	5.08	3.34	0.38264	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.094278	0.64402	D	0.000001	D	0.89801	0.6820	M	0.88105	2.93	0.49389	D	0.999785	D	0.89917	1.0	D	0.73708	0.981	D	0.90128	0.4204	10	0.87932	D	0	.	11.3906	0.49811	0.1476:0.0:0.8524:0.0	.	2678	P51587	BRCA2_HUMAN	M	2678	ENSP00000369497:R2678M;ENSP00000439902:R2678M	ENSP00000369497:R2678M	R	+	2	0	BRCA2	31835372	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.143000	0.50608	0.659000	0.30945	0.467000	0.42956	AGG		0.333	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
ADARB2	105	hgsc.bcm.edu	37	10	1262964	1262964	+	Missense_Mutation	SNP	C	C	T	rs150320038		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:1262964C>T	ENST00000381312.1	-	7	1934	c.1609G>A	c.(1609-1611)Gca>Aca	p.A537T	ADARB2_ENST00000469464.1_5'UTR	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	537	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTCTGCACTGCGCTGGGGCCA	0.662																																																	0			10						C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	50.0	43.0	45.0		1609	0.2	0.0	10	dbSNP_134	45	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADARB2	NM_018702.3	58	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	537/740	1262964	3,13003	2203	4300	6503	1252964	SO:0001583	missense	105			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.1609G>A	10.37:g.1262964C>T	ENSP00000370713:p.Ala537Thr		1252964	B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	9.167	1.020170	0.19433	4.54E-4	1.16E-4	ENSG00000185736	ENST00000381312	D	0.93763	-3.28	5.41	0.166	0.14999	Adenosine deaminase/editase (3);	0.405255	0.29369	N	0.012348	D	0.83041	0.5168	N	0.19112	0.55	0.47308	D	0.999388	B	0.12013	0.005	B	0.19391	0.025	T	0.65393	-0.6179	10	0.12766	T	0.61	-3.2963	5.5037	0.16842	0.1796:0.5608:0.0:0.2596	.	537	Q9NS39	RED2_HUMAN	T	537	ENSP00000370713:A537T	ENSP00000370713:A537T	A	-	1	0	ADARB2	1252964	0.000000	0.05858	0.003000	0.11579	0.872000	0.50106	-0.332000	0.07904	-0.256000	0.09473	0.491000	0.48974	GCA		0.662	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702	
GPR158	57512	hgsc.bcm.edu	37	10	25887864	25887864	+	Silent	SNP	C	C	T	rs149155339		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:25887864C>T	ENST00000376351.3	+	11	3668	c.3309C>T	c.(3307-3309)aaC>aaT	p.N1103N	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1103					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.N1103N(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGAGGAGAACGGAGGTCAGC	0.493													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18272	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	ovary(1)	10						C		1,4405		0,1,2202	79.0	84.0	82.0		3309	-11.8	0.0	10	dbSNP_134	82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GPR158	NM_020752.2		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		1103/1216	25887864	3,13003	2203	4300	6503	25927870	SO:0001819	synonymous_variant	57512			AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.3309C>T	10.37:g.25887864C>T			25927870	Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	CCDS31166.1																																																																																				0.493	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110	
WDFY4	57705	hgsc.bcm.edu	37	10	49939427	49939427	+	Nonsense_Mutation	SNP	C	C	T	rs539358549		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:49939427C>T	ENST00000325239.5	+	8	1429	c.1402C>T	c.(1402-1404)Cga>Tga	p.R468*	WDFY4_ENST00000360890.2_Nonsense_Mutation_p.R468*|WDFY4_ENST00000413659.2_Nonsense_Mutation_p.R468*	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	468						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TGAGATCCTGCGAAAGGTACA	0.597																																																	0			10											68.0	64.0	65.0					10																	49939427		692	1591	2283	49609433	SO:0001587	stop_gained	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1402C>T	10.37:g.49939427C>T	ENSP00000320563:p.Arg468*		49609433	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Nonsense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013014	0.93346	.	.	ENSG00000128815	ENST00000360890;ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659	.	.	.	5.58	0.747	0.18371	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	8.0663	0.30663	0.3061:0.4183:0.2756:0.0	.	.	.	.	X	468;477;468;468;468	.	ENSP00000320563:R468X	R	+	1	2	WDFY4	49609433	0.023000	0.18921	0.346000	0.25655	0.710000	0.40934	0.042000	0.13949	0.197000	0.20387	0.563000	0.77884	CGA		0.597	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
ANK3	288	hgsc.bcm.edu	37	10	61832653	61832653	+	Silent	SNP	G	G	A	rs147625375		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:61832653G>A	ENST00000280772.2	-	37	8177	c.7986C>T	c.(7984-7986)gcC>gcT	p.A2662A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2662					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTTCTCCTCGGCCTTGGGGA	0.547																																																	0			10						G	,,,	1,4405	2.1+/-5.4	0,1,2202	91.0	76.0	81.0		,,,7986	-4.9	0.1	10	dbSNP_134	81	0,8600		0,0,4300	no	intron,intron,intron,coding-synonymous	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	,,,2662/4378	61832653	1,13005	2203	4300	6503	61502659	SO:0001819	synonymous_variant	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7986C>T	10.37:g.61832653G>A			61502659	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	CCDS7258.1																																																																																				0.547	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
LGI1	9211	hgsc.bcm.edu	37	10	95553061	95553061	+	Silent	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:95553061A>G	ENST00000371418.4	+	7	1052	c.792A>G	c.(790-792)gaA>gaG	p.E264E	LGI1_ENST00000371413.3_Silent_p.E264E|LGI1_ENST00000542308.1_Silent_p.E216E	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	264					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				TTTTCCTTGAATGGGACCATG	0.373																																																	0			10											131.0	123.0	126.0					10																	95553061		2203	4300	6503	95543051	SO:0001819	synonymous_variant	9211			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.792A>G	10.37:g.95553061A>G			95543051	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Silent	SNP	ENST00000371418.4	37	CCDS7431.1																																																																																				0.373	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049445.1	NM_005097	
ABCC2	1244	hgsc.bcm.edu	37	10	101578640	101578640	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:101578640T>C	ENST00000370449.4	+	18	2478	c.2365T>C	c.(2365-2367)Tct>Cct	p.S789P		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	789	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.		S -> F (in dbSNP:rs56220353). {ECO:0000269|PubMed:11266082}.		cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	TGACCCCCTGTCTGCAGTGGA	0.448																																																	0			10											71.0	75.0	74.0					10																	101578640		2203	4300	6503	101568630	SO:0001583	missense	1244			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.2365T>C	10.37:g.101578640T>C	ENSP00000359478:p.Ser789Pro		101568630	B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	ENST00000370449.4	37	CCDS7484.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518621	0.64634	.	.	ENSG00000023839	ENST00000370449	D	0.93019	-3.15	6.08	6.08	0.98989	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.98324	0.9444	H	0.99182	4.46	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99709	1.1006	10	0.87932	D	0	-9.0945	15.8241	0.78683	0.0:0.0:0.0:1.0	.	789	Q92887	MRP2_HUMAN	P	789	ENSP00000359478:S789P	ENSP00000359478:S789P	S	+	1	0	ABCC2	101568630	1.000000	0.71417	0.624000	0.29186	0.183000	0.23260	8.037000	0.88933	2.330000	0.79161	0.533000	0.62120	TCT		0.448	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392	
DMBT1	1755	hgsc.bcm.edu	37	10	124402685	124402685	+	Missense_Mutation	SNP	G	G	A	rs373485754		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:124402685G>A	ENST00000338354.3	+	53	7119	c.7013G>A	c.(7012-7014)cGc>cAc	p.R2338H	DMBT1_ENST00000368956.2_Missense_Mutation_p.R1710H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R2328H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R2328H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1710H|DMBT1_ENST00000368909.3_Missense_Mutation_p.R2338H|DMBT1_ENST00000359586.6_Missense_Mutation_p.R1058H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2338	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CCATCTCTTCGCATTGCCCGC	0.567																																					Ovarian(182;93 2026 18125 22222 38972)												0			10						G	HIS/ARG,HIS/ARG,HIS/ARG	0,4188		0,0,2094	122.0	133.0	129.0		5129,7013,6983	-2.3	0.0	10		129	2,8426		0,2,4212	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	29,29,29	0,2,6306	AA,AG,GG		0.0237,0.0,0.0159	probably-damaging,probably-damaging,probably-damaging	1710/1786,2338/2414,2328/2404	124402685	2,12614	2094	4214	6308	124392675	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.7013G>A	10.37:g.124402685G>A	ENSP00000342210:p.Arg2338His		124392675	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	15.87	2.960030	0.53400	0.0	2.37E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	T;T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.28	-2.3	0.06785	Zona pellucida sperm-binding protein (3);	0.647614	0.12372	U	0.474651	T	0.75686	0.3883	L	0.27053	0.805	0.09310	N	1	B;D;B;B;B;B;B	0.71674	0.054;0.998;0.011;0.043;0.011;0.043;0.054	B;P;B;B;B;B;B	0.53649	0.011;0.731;0.004;0.008;0.004;0.008;0.013	T	0.69548	-0.5116	10	0.40728	T	0.16	.	12.6859	0.56948	0.6711:0.0:0.3289:0.0	.	1058;2318;1587;2467;1710;2328;2338	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	H	2338;2467;2338;2338;2338;2337;1710;2328;1710;1710;2338;2328;1710;484;1058	ENSP00000342210:R2338H;ENSP00000343175:R2328H;ENSP00000327747:R1710H;ENSP00000357905:R2338H;ENSP00000357951:R2328H;ENSP00000357952:R1710H;ENSP00000352593:R1058H	ENSP00000331522:R1710H	R	+	2	0	DMBT1	124392675	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.426000	0.07008	-0.534000	0.06315	-0.136000	0.14681	CGC		0.567	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
MKI67	4288	hgsc.bcm.edu	37	10	129905236	129905236	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr10:129905236T>C	ENST00000368654.3	-	13	5243	c.4868A>G	c.(4867-4869)gAc>gGc	p.D1623G	MKI67_ENST00000368653.3_Missense_Mutation_p.D1263G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1623	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGGTTTTTGTCTGGGTCTGG	0.498																																																	0			10											212.0	212.0	212.0					10																	129905236		2203	4300	6503	129795226	SO:0001583	missense	4288			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4868A>G	10.37:g.129905236T>C	ENSP00000357643:p.Asp1623Gly		129795226	Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.810208	0.32053	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.02121	4.44;4.44	2.75	0.203	0.15195	.	0.606583	0.12571	N	0.457287	T	0.02494	0.0076	N	0.22421	0.69	0.09310	N	1	P;D;P	0.63880	0.73;0.993;0.789	B;P;P	0.53062	0.181;0.717;0.504	T	0.47235	-0.9133	10	0.29301	T	0.29	.	2.595	0.04852	0.3999:0.0:0.1339:0.4663	.	1622;1263;1623	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	G	1623;1263;1622	ENSP00000357643:D1623G;ENSP00000357642:D1263G	ENSP00000357642:D1263G	D	-	2	0	MKI67	129795226	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-3.866000	0.00347	0.029000	0.15352	-0.624000	0.04008	GAC		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417	
DNAH5	1767	hgsc.bcm.edu	37	5	13717480	13717480	+	Missense_Mutation	SNP	A	A	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:13717480A>T	ENST00000265104.4	-	73	12753	c.12649T>A	c.(12649-12651)Ttt>Att	p.F4217I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4217	AAA 6. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTGGCATTAAAGTCCGCTTGG	0.537									Kartagener syndrome																																								0			5											75.0	64.0	68.0					5																	13717480		2203	4300	6503	13770480	SO:0001583	missense	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.12649T>A	5.37:g.13717480A>T	ENSP00000265104:p.Phe4217Ile		13770480	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	34	5.321564	0.95682	.	.	ENSG00000039139	ENST00000265104	T	0.08102	3.13	5.54	5.54	0.83059	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	M	0.91920	3.255	0.80722	D	1	P	0.43701	0.815	P	0.53035	0.716	T	0.21759	-1.0236	10	0.66056	D	0.02	.	15.6836	0.77391	1.0:0.0:0.0:0.0	.	4217	Q8TE73	DYH5_HUMAN	I	4217	ENSP00000265104:F4217I	ENSP00000265104:F4217I	F	-	1	0	DNAH5	13770480	1.000000	0.71417	0.996000	0.52242	0.826000	0.46750	9.315000	0.96313	2.105000	0.64084	0.533000	0.62120	TTT		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
TRIO	7204	hgsc.bcm.edu	37	5	14472722	14472722	+	Silent	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:14472722G>A	ENST00000344204.4	+	39	5958	c.5934G>A	c.(5932-5934)gtG>gtA	p.V1978V	TRIO_ENST00000537187.1_Silent_p.V1978V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1978	DH 2. {ECO:0000255|PROSITE- ProRule:PRU00062}.		V -> M (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		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)					AAGAACTAGTGGAGACAGAGC	0.393																																																	0			5											204.0	177.0	186.0					5																	14472722		2203	4300	6503	14525722	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.5934G>A	5.37:g.14472722G>A			14525722	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	ENST00000344204.4	37	CCDS3883.1																																																																																				0.393	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
PIK3R1	5295	hgsc.bcm.edu	37	5	67589612	67589612	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:67589612A>G	ENST00000521381.1	+	11	1991	c.1375A>G	c.(1375-1377)Aaa>Gaa	p.K459E	PIK3R1_ENST00000274335.5_Missense_Mutation_p.K459E|PIK3R1_ENST00000396611.1_Missense_Mutation_p.K459E|PIK3R1_ENST00000523872.1_Missense_Mutation_p.K96E|PIK3R1_ENST00000336483.5_Missense_Mutation_p.K189E|PIK3R1_ENST00000320694.8_Missense_Mutation_p.K159E|PIK3R1_ENST00000521657.1_Missense_Mutation_p.K459E	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	459					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.K459E(1)|p.F456_R461>S(1)|p.F456_R461del(1)|p.Q457_R461del(1)|p.T454_D464del(1)|p.K459del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	GTTTCAAGAAAAAAGTCGAGA	0.274			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	8	Deletion - In frame(4)|Substitution - Missense(1)|Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	endometrium(5)|large_intestine(1)|lung(1)|central_nervous_system(1)	5											45.0	49.0	47.0					5																	67589612		2186	4269	6455	67625368	SO:0001583	missense	5295			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1375A>G	5.37:g.67589612A>G	ENSP00000428056:p.Lys459Glu		67625368	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.111229	0.77210	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000521409;ENST00000336483;ENST00000519025;ENST00000523872	T;T;T;T;D;T;D;T;D	0.83335	-0.58;-0.58;-0.46;-0.58;-1.6;0.74;-1.62;0.3;-1.71	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.86569	0.5964	M	0.84846	2.72	0.80722	D	1	P;P;B;D	0.56746	0.603;0.711;0.413;0.977	B;P;B;P	0.46718	0.209;0.497;0.244;0.525	D	0.87415	0.2378	10	0.38643	T	0.18	-31.4976	15.3459	0.74337	1.0:0.0:0.0:0.0	.	129;189;159;459	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	E	459;459;459;459;159;96;189;132;96	ENSP00000428056:K459E;ENSP00000429277:K459E;ENSP00000379855:K459E;ENSP00000274335:K459E;ENSP00000323512:K159E;ENSP00000431058:K96E;ENSP00000338554:K189E;ENSP00000429156:K132E;ENSP00000430098:K96E	ENSP00000274335:K459E	K	+	1	0	PIK3R1	67625368	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.709000	0.91379	2.277000	0.76020	0.528000	0.53228	AAA		0.274	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
ATP6AP1L	92270	hgsc.bcm.edu	37	5	81613867	81613867	+	Silent	SNP	C	C	T	rs371506768		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:81613867C>T	ENST00000380167.4	+	10	1748	c.423C>T	c.(421-423)tgC>tgT	p.C141C	ATP6AP1L_ENST00000439350.1_Silent_p.C141C|ATP6AP1L_ENST00000508366.1_Intron			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	141					ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)	p.C141C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CCCAAGACTGCGCCTCCTCCT	0.547																																																	1	Substitution - coding silent(1)	large_intestine(1)	5						C		0,4406		0,0,2203	97.0	84.0	89.0		423	-6.3	0.0	5		89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6AP1L	NM_001017971.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		141/225	81613867	1,13005	2203	4300	6503	81649623	SO:0001819	synonymous_variant	92270			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000380167.4:c.423C>T	5.37:g.81613867C>T			81649623		Silent	SNP	ENST00000380167.4	37	CCDS34196.1																																																																																				0.547	ATP6AP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369562.3	NM_001017971	
GPR98	84059	hgsc.bcm.edu	37	5	90024539	90024539	+	Silent	SNP	A	A	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:90024539A>C	ENST00000405460.2	+	49	10311	c.10215A>C	c.(10213-10215)cgA>cgC	p.R3405R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3405					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCCCTGTCCGAGGTGTGCTGA	0.463																																																	0			5											167.0	164.0	165.0					5																	90024539		1987	4166	6153	90060295	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.10215A>C	5.37:g.90024539A>C			90060295	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	9.409	1.079988	0.20309	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.46	-3.07	0.05363	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.24707	N	0.993227	.	.	.	.	.	.	T	0.27706	-1.0066	4	.	.	.	.	0.4076	0.00436	0.2024:0.1816:0.2256:0.3904	.	.	.	.	A	971	.	.	E	+	2	0	GPR98	90060295	0.036000	0.19791	0.947000	0.38551	0.889000	0.51656	0.029000	0.13666	-0.157000	0.11059	0.455000	0.32223	GAG		0.463	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
ANKRD32	84250	hgsc.bcm.edu	37	5	94022409	94022409	+	Missense_Mutation	SNP	T	T	C			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:94022409T>C	ENST00000265140.5	+	16	2526	c.2107T>C	c.(2107-2109)Tct>Cct	p.S703P		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	703						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TGAGCCACTCTCTCTTCAGAA	0.358																																																	0			5											102.0	102.0	102.0					5																	94022409		2203	4300	6503	94048165	SO:0001583	missense	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2107T>C	5.37:g.94022409T>C	ENSP00000265140:p.Ser703Pro		94048165	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.984866	0.74474	.	.	ENSG00000133302	ENST00000265140	T	0.65549	-0.16	5.63	4.44	0.53790	.	0.077565	0.64402	D	0.000008	T	0.60958	0.2309	L	0.34521	1.04	0.36845	D	0.887613	D	0.54047	0.964	P	0.52267	0.694	T	0.69183	-0.5212	10	0.87932	D	0	.	11.8829	0.52586	0.131:0.0:0.0:0.869	.	703	Q9BQI6	ANR32_HUMAN	P	703	ENSP00000265140:S703P	ENSP00000265140:S703P	S	+	1	0	ANKRD32	94048165	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	6.338000	0.72963	1.019000	0.39547	0.533000	0.62120	TCT		0.358	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290	
APC	324	hgsc.bcm.edu	37	5	112174225	112174225	+	Silent	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:112174225A>G	ENST00000457016.1	+	16	3314	c.2934A>G	c.(2932-2934)caA>caG	p.Q978Q	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.Q978Q|APC_ENST00000508376.2_Silent_p.Q978Q			P25054	APC_HUMAN	adenomatous polyposis coli	978	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGAGGTCAAATGAAACCCT	0.363		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											79.0	74.0	76.0					5																	112174225		2202	4300	6502	112202124	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2934A>G	5.37:g.112174225A>G			112202124	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112174631	112174631	+	Nonsense_Mutation	SNP	C	C	T	rs121913331		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:112174631C>T	ENST00000457016.1	+	16	3720	c.3340C>T	c.(3340-3342)Cga>Tga	p.R1114*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R1114*|APC_ENST00000508376.2_Nonsense_Mutation_p.R1114*			P25054	APC_HUMAN	adenomatous polyposis coli	1114	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1114*(30)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAACAAATCGAGTGGGTTC	0.403	R1114*(LOVO_LARGE_INTESTINE)|R1114*(SW948_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	31	Substitution - Nonsense(30)|Unknown(1)	large_intestine(29)|ovary(1)|skin(1)	5	GRCh37	CM920048	APC	M	rs121913331						90.0	82.0	85.0					5																	112174631		2202	4300	6502	112202530	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3340C>T	5.37:g.112174631C>T	ENSP00000413133:p.Arg1114*		112202530	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	38	6.950292	0.97956	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.76	4.88	0.63580	.	0.190581	0.42172	D	0.000759	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.7869	14.0911	0.64990	0.3279:0.6721:0.0:0.0	.	.	.	.	X	1114;1096;1114;1114;1114	.	ENSP00000257430:R1114X	R	+	1	2	APC	112202530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.208000	0.42797	1.423000	0.47198	0.655000	0.94253	CGA		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175216	112175216	+	Nonsense_Mutation	SNP	G	G	T	rs121913224		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:112175216G>T	ENST00000457016.1	+	16	4305	c.3925G>T	c.(3925-3927)Gaa>Taa	p.E1309*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1309*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1309*			P25054	APC_HUMAN	adenomatous polyposis coli	1309	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.			E -> G (in Ref. 1; AAA60353/AAA60354). {ECO:0000305}.	anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.E1309fs*4(42)|p.E1309*(25)|p.I1311fs*4(2)|p.?(1)|p.E1309fs*6(1)|p.E1309fs*5(1)|p.K1192fs*3(1)|p.E1309K(1)|p.K1308fs*4(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AGAAATAAAAGAAAAGATTGG	0.423		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	75	Deletion - Frameshift(45)|Substitution - Nonsense(25)|Insertion - Frameshift(3)|Unknown(1)|Substitution - Missense(1)	large_intestine(71)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|skin(1)	5	GRCh37	CD084022|CD941590|CM920052	APC	D|M							54.0	55.0	55.0					5																	112175216		2202	4300	6502	112203115	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3925G>T	5.37:g.112175216G>T	ENSP00000413133:p.Glu1309*		112203115	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	37	6.023820	0.97211	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	5.73	5.73	0.89815	.	0.365794	0.32503	N	0.006002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.1954	19.8705	0.96849	0.0:0.0:1.0:0.0	.	.	.	.	X	1309	.	.	E	+	1	0	APC	112203115	1.000000	0.71417	0.971000	0.41717	0.520000	0.34377	7.454000	0.80714	2.861000	0.98227	0.655000	0.94253	GAA		0.423	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175228	112175228	+	Missense_Mutation	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:112175228A>G	ENST00000457016.1	+	16	4317	c.3937A>G	c.(3937-3939)Act>Gct	p.T1313A	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.T1313A|APC_ENST00000508376.2_Missense_Mutation_p.T1313A			P25054	APC_HUMAN	adenomatous polyposis coli	1313	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.		T -> A (in FAP and colorectal tumor).		anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)|p.T1313A(1)|p.K1192fs*3(1)|p.T1313fs*8(1)|p.G1312fs*4(1)|p.G1312fs*1(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAAGATTGGAACTAGGTCAGC	0.428		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	6	Deletion - Frameshift(4)|Substitution - Missense(1)|Unknown(1)	large_intestine(4)|soft_tissue(1)|skin(1)	5											57.0	59.0	58.0					5																	112175228		2202	4300	6502	112203127	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3937A>G	5.37:g.112175228A>G	ENSP00000413133:p.Thr1313Ala		112203127	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-2.981073	0.00046	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88431	-2.38;-2.38;-2.38	6.03	-0.607	0.11615	.	0.686688	0.15487	N	0.259761	T	0.71451	0.3341	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.57124	-0.7865	9	.	.	.	-2.9388	5.866	0.18775	0.3827:0.383:0.2343:0.0	.	1315;1313	Q4LE70;P25054	.;APC_HUMAN	A	1313	ENSP00000413133:T1313A;ENSP00000257430:T1313A;ENSP00000427089:T1313A	.	T	+	1	0	APC	112203127	0.000000	0.05858	0.009000	0.14445	0.007000	0.05969	-0.182000	0.09726	-0.080000	0.12685	-0.316000	0.08728	ACT		0.428	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PRR16	51334	hgsc.bcm.edu	37	5	120022314	120022314	+	Silent	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:120022314C>T	ENST00000407149.2	+	2	1034	c.825C>T	c.(823-825)ttC>ttT	p.F275F	PRR16_ENST00000505123.1_Silent_p.F205F|PRR16_ENST00000446965.1_Silent_p.F205F|PRR16_ENST00000379551.2_Silent_p.F252F			Q569H4	LARGN_HUMAN	proline rich 16	275	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GTAACAGCTTCCCCCCTATCA	0.527																																																	0			5											75.0	73.0	74.0					5																	120022314		2203	4300	6503	120050213	SO:0001819	synonymous_variant	51334			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.825C>T	5.37:g.120022314C>T			120050213	D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	ENST00000407149.2	37																																																																																					0.527	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
CHSY3	337876	hgsc.bcm.edu	37	5	129521023	129521023	+	Silent	SNP	C	C	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:129521023C>A	ENST00000305031.4	+	3	2546	c.2188C>A	c.(2188-2190)Cga>Aga	p.R730R		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	730					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTTTCTCCAACGATGTAGAGA	0.433																																																	0			5											115.0	109.0	111.0					5																	129521023		2203	4300	6503	129548922	SO:0001819	synonymous_variant	337876			AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2188C>A	5.37:g.129521023C>A			129548922	B2RP97|Q76L22|Q86Y52	Silent	SNP	ENST00000305031.4	37	CCDS34223.1																																																																																				0.433	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856	
PCDHAC2	56134	hgsc.bcm.edu	37	5	140348597	140348597	+	Missense_Mutation	SNP	G	G	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:140348597G>T	ENST00000289269.5	+	1	2778	c.2246G>T	c.(2245-2247)aGg>aTg	p.R749M	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	749					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGAGTAAGGGAAAGGTCC	0.453																																					Melanoma(190;638 2083 3390 11909 52360)												0			5											90.0	86.0	87.0					5																	140348597		2203	4300	6503	140328781	SO:0001583	missense	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.2246G>T	5.37:g.140348597G>T	ENSP00000289269:p.Arg749Met		140328781	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	37	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.458880	0.26248	.	.	ENSG00000243232	ENST00000289269	T	0.48836	0.8	5.53	4.67	0.58626	.	0.000000	0.45126	D	0.000396	T	0.47210	0.1433	N	0.08118	0	0.43000	D	0.994515	D;D	0.76494	0.999;0.996	D;P	0.69654	0.965;0.894	T	0.55598	-0.8116	10	0.46703	T	0.11	.	14.1215	0.65189	0.0721:0.0:0.9279:0.0	.	749;749	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	M	749	ENSP00000289269:R749M	ENSP00000289269:R749M	R	+	2	0	PCDHAC2	140328781	1.000000	0.71417	1.000000	0.80357	0.363000	0.29612	3.664000	0.54525	1.345000	0.45676	0.462000	0.41574	AGG		0.453	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
SLC25A2	83884	hgsc.bcm.edu	37	5	140683389	140683389	+	Missense_Mutation	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr5:140683389G>A	ENST00000239451.4	-	1	223	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	15					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.A15V(1)		breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	TGCGGCCCCCGCTGTGAGGTC	0.607																																																	1	Substitution - Missense(1)	breast(1)	5											44.0	46.0	45.0					5																	140683389		2203	4300	6503	140663573	SO:0001583	missense	83884			AF332005	CCDS4258.1	5q31.3	2013-05-22			ENSG00000120329	ENSG00000120329		"""Solute carriers"""	22921	protein-coding gene	gene with protein product		608157				11004451	Standard	NM_031947		Approved	ORNT2	uc003ljf.3	Q9BXI2	OTTHUMG00000129604	ENST00000239451.4:c.44C>T	5.37:g.140683389G>A	ENSP00000239451:p.Ala15Val		140663573	Q496C1|Q6XUI0|Q8NFZ2	Missense_Mutation	SNP	ENST00000239451.4	37	CCDS4258.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803561	0.50315	.	.	ENSG00000120329	ENST00000239451	D	0.82081	-1.57	4.27	3.39	0.38822	Mitochondrial carrier domain (2);	0.000000	0.85682	U	0.000000	D	0.91523	0.7323	M	0.92122	3.275	0.47308	D	0.999389	D	0.69078	0.997	D	0.65684	0.937	D	0.92302	0.5850	10	0.87932	D	0	-17.268	10.8236	0.46619	0.0984:0.0:0.9016:0.0	.	15	Q9BXI2	ORNT2_HUMAN	V	15	ENSP00000239451:A15V	ENSP00000239451:A15V	A	-	2	0	SLC25A2	140663573	0.197000	0.23362	0.712000	0.30502	0.319000	0.28217	3.134000	0.50538	1.099000	0.41499	0.484000	0.47621	GCG		0.607	SLC25A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251799.2	NM_031947	
TUBGCP6	85378	hgsc.bcm.edu	37	22	50657130	50657130	+	Splice_Site	SNP	A	A	G			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr22:50657130A>G	ENST00000248846.5	-	21	4926		c.e21+1		TUBGCP6_ENST00000439308.2_Splice_Site|TUBGCP6_ENST00000491449.1_Splice_Site			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6						G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)	p.?(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCTGCTGCTGACCTTGTACCT	0.672																																																	1	Unknown(1)	central_nervous_system(1)	22											41.0	39.0	40.0					22																	50657130		2203	4300	6503	48999257	SO:0001630	splice_region_variant	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.4821+1T>C	22.37:g.50657130A>G			48999257	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Splice_Site	SNP	ENST00000248846.5	37	CCDS14087.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.180931	0.78677	.	.	ENSG00000128159	ENST00000248846;ENST00000425018	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8622	0.63569	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TUBGCP6	48999257	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.859000	0.92264	1.945000	0.56424	0.482000	0.46254	.		0.672	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075004.3	NM_020461	Intron
TP53	7157	hgsc.bcm.edu	37	17	7578370	7578370	+	Splice_Site	SNP	C	C	T			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:7578370C>T	ENST00000269305.4	-	5	749		c.e5+1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site	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						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.?(54)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	CAGCTGCTCACCATCGCTATC	0.632		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"""	68	Unknown(54)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	lung(12)|breast(9)|oesophagus(7)|ovary(7)|liver(7)|urinary_tract(5)|NS(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(2)|stomach(1)|soft_tissue(1)	17											48.0	46.0	47.0					17																	7578370		2203	4300	6503	7519095	SO:0001630	splice_region_variant	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.559+1G>A	17.37:g.7578370C>T			7519095	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	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774230	0.31411	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0738	0.59075	0.0:0.8363:0.1637:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519095	1.000000	0.71417	0.967000	0.41034	0.201000	0.24016	3.085000	0.50151	1.248000	0.43934	0.655000	0.94253	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
ANKRD30B	374860	hgsc.bcm.edu	37	18	14752564	14752564	+	Splice_Site	SNP	G	G	A			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr18:14752564G>A	ENST00000358984.4	+	2	401		c.e2-1		ANKRD30B_ENST00000447268.2_Splice_Site|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B											breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACTCTCGTAGGACTGCTCTA	0.433																																																	0			18											57.0	48.0	51.0					18																	14752564		692	1591	2283	14742564	SO:0001630	splice_region_variant	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.222-1G>A	18.37:g.14752564G>A			14742564	B4DGP1|F8WAG3|Q4G175	Splice_Site	SNP	ENST00000358984.4	37	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	G	4.544	0.101069	0.08731	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	.	.	.	1.63	1.63	0.23807	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.6992	0.23215	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANKRD30B	14742564	1.000000	0.71417	0.843000	0.33291	0.091000	0.18340	5.172000	0.65003	1.218000	0.43458	0.290000	0.19541	.		0.433	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029	Intron
PLCH2	9651	hgsc.bcm.edu	37	1	2430086	2430087	+	Splice_Site	INS	-	-	GTGGGGGCC	rs142848828		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:2430086_2430087insGTGGGGGCC	ENST00000419816.2	+	17	2623	c.2349_2349insGTGGGGGCC	c.(2350-2352)atc>atGTGGGGGCCc	p.784_784I>MWGP	PLCH2_ENST00000378488.3_Splice_Site_p.748_748I>MWGP|PLCH2_ENST00000449969.1_Splice_Site_p.757_757I>MWGP|PLCH2_ENST00000378486.3_Splice_Site_p.784_784I>MWGP|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	784	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCGTGGGGAGGTGGGGGCCAG	0.703																																																	2	Insertion - In frame(2)	central_nervous_system(2)	1								34,3260		6,22,1619						4.8	1.0		dbSNP_134	6	360,6988		44,272,3358	no	coding-near-splice	PLCH2	NM_014638.2		50,294,4977	A1A1,A1R,RR		4.8993,1.0322,3.7023				394,10248				2419947	SO:0001630	splice_region_variant	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2349+1->GTGGGGGCC	1.37:g.2430087_2430095dupGTGGGGGCC			2419946	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	In_Frame_Ins	INS	ENST00000419816.2	37																																																																																					0.703	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638	In_Frame_Ins
PHACTR4	65979	hgsc.bcm.edu	37	1	28785730	28785730	+	Frame_Shift_Del	DEL	A	A	-	rs550399400		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:28785730delA	ENST00000373839.3	+	3	412	c.151delA	c.(151-153)aaafs	p.K53fs	PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	53					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S64fs*12(3)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATGGAGGAAAAAAAAAAG	0.393																																																	3	Deletion - Frameshift(3)	ovary(2)|breast(1)	1							,	74,3472		1,72,1700	69.0	66.0	67.0		,	4.4	1.0	1		71	172,7652		3,166,3743	no	frameshift,frameshift	PHACTR4	NM_023923.3,NM_001048183.1	,	4,238,5443	A1A1,A1R,RR		2.1984,2.0869,2.1636	,	,	28785730	246,11124	1842	4093	5935	28658317	SO:0001589	frameshift_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.151delA	1.37:g.28785730delA	ENSP00000362945:p.Lys53fs		28658317	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Del	DEL	ENST00000373839.3	37	CCDS41293.1																																																																																				0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786315	75786323	+	In_Frame_Del	DEL	CTACATTCT	CTACATTCT	-	rs146447046|rs202196860		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	CTACATTCT	CTACATTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:75786315_75786323delCTACATTCT	ENST00000478296.1	-	4	2577_2585	c.2301_2309delAGAATGTAG	c.(2299-2310)aaagaatgtagg>aag	p.ECR768del	ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_In_Frame_Del_p.ECR818del|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_In_Frame_Del_p.ECR811del			Q9BY31	ZN717_HUMAN	zinc finger protein 717	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GAAGGTTTTCCTACATTCTTTACATTCAA	0.383																																																	0			3																																								75869013	SO:0001651	inframe_deletion	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.2301_2309delAGAATGTAG	3.37:g.75786315_75786323delCTACATTCT	ENSP00000419377:p.Glu768_Arg770del		75869005		In_Frame_Del	DEL	ENST00000478296.1	37																																																																																					0.383	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
MUC4	4585	hgsc.bcm.edu	37	3	195512550	195512597	+	In_Frame_Del	DEL	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	-	rs6799339|rs71254296|rs150659095|rs558165743|rs576374543|rs537525175|rs566422076|rs199625793|rs539429280	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENST00000463781.3	-	2	6313_6360	c.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	c.(5854-5901)cctcttcctgtcaccgacgcttcctcagtacccacaggtcacgccaccdel	p.PLPVTDASSVPTGHAT1952del	MUC4_ENST00000475231.1_In_Frame_Del_p.PLPVTDASSVPTGHAT1952del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	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.P1952_T1967delPLPVTDASSVPTGHAT(4)|p.P1952S(1)|p.V1961V(1)|p.P1962S(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)		CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGA	0.601																																																	7	Deletion - In frame(4)|Substitution - Missense(2)|Substitution - coding silent(1)	stomach(4)|endometrium(3)	3																																								196996992	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.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	3.37:g.195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENSP00000417498:p.Pro1952_Thr1967del		196996945	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																																																																																				0.601	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
C6orf132	647024	hgsc.bcm.edu	37	6	42075105	42075131	+	In_Frame_Del	DEL	GGTGGGGGTTCCAGCAGCAGGGGAGGT	GGTGGGGGTTCCAGCAGCAGGGGAGGT	-	rs553334748|rs539692316	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	GGTGGGGGTTCCAGCAGCAGGGGAGGT	GGTGGGGGTTCCAGCAGCAGGGGAGGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr6:42075105_42075131delGGTGGGGGTTCCAGCAGCAGGGGAGGT	ENST00000341865.4	-	4	518_544	c.519_545delACCTCCCCTGCTGCTGGAACCCCCACC	c.(517-546)ccacctcccctgctgctggaacccccaccc>ccc	p.173_182PPPLLLEPPP>P		NM_001164446.1	NP_001157918.1	Q5T0Z8	CF132_HUMAN	chromosome 6 open reading frame 132	173	Pro-rich.									breast(1)	1						gctgggcgggggtgggggttccagcagcaggggaggtggtgggggtg	0.665																																																	0			6								8,1312		4,0,656						1.1	0.5			2	76,2832		27,22,1405	no	coding	C6orf132	NM_001164446.1		31,22,2061	A1A1,A1R,RR		2.6135,0.6061,1.9868				84,4144				42183109	SO:0001651	inframe_deletion	647024				CCDS47428.1	6p21.1	2012-02-06			ENSG00000188112	ENSG00000188112			21288	protein-coding gene	gene with protein product							Standard	NM_001164446		Approved	bA7K24.2	uc003orw.2	Q5T0Z8	OTTHUMG00000014695	ENST00000341865.4:c.519_545delACCTCCCCTGCTGCTGGAACCCCCACC	6.37:g.42075105_42075131delGGTGGGGGTTCCAGCAGCAGGGGAGGT	ENSP00000341368:p.Pro173_Pro181del		42183083	A6NI05	In_Frame_Del	DEL	ENST00000341865.4	37	CCDS47428.1																																																																																				0.665	C6orf132-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040548.2	NM_001164446	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000352435.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P|PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000265462.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
BCL9L	283149	hgsc.bcm.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703																																																	0			11								27,4235		0,27,2104						-5.2	0.6			35	32,8218		0,32,4093	no	frameshift	BCL9L	NM_182557.2		0,59,6197	A1A1,A1R,RR		0.3879,0.6335,0.4715				59,12453				118275862	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3381dupC	11.37:g.118770659_118770659dupG	ENSP00000335320:p.Pro1127fs		118275861	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	ENST00000334801.3	37	CCDS8403.1																																																																																				0.703	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs|KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs		51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				0.599	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
IFI27	3429	hgsc.bcm.edu	37	14	94582130	94582131	+	In_Frame_Ins	INS	-	-	GGCCATGGC	rs3833507	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr14:94582130_94582131insGGCCATGGC	ENST00000555744.1	+	4	313_314	c.125_126insGGCCATGGC	c.(124-129)gtggct>gtGGCCATGGCggct	p.43_44insMAA	IFI27_ENST00000444961.1_Splice_Site_p.46_47insMAA|IFI27_ENST00000448882.1_In_Frame_Ins_p.46_47insMAA|IFI27_ENST00000557634.1_In_Frame_Ins_p.33_34insMAA|IFI27_ENST00000298902.5_In_Frame_Ins_p.43_44insMAA|IFI27_ENST00000557098.1_De_novo_Start_InFrame			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.A43_V44insMAA(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CCTGCAGTTGTGGCTGTGCCCA	0.629														3294	0.657748	0.8306	0.5591	5008	,	,		18519	0.5486		0.6282	False		,,,				2504	0.637				GBM(128;797 1667 20895 29868 47129)												1	Insertion - In frame(1)	breast(1)	14								3129,1037		1234,661,188						-1.5	0.0		dbSNP_107	13	4889,3239		1588,1713,763	no	coding	IFI27	NM_005532.3		2822,2374,951	A1A1,A1R,RR		39.8499,24.892,34.7812				8018,4276				93651884	SO:0001652	inframe_insertion	3429			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	Exception_encountered	14.37:g.94582130_94582131insGGCCATGGC	ENSP00000451956:p.Ala43_Val44insMetAlaAla		93651883	Q53YA6|Q6IEC1|Q96BK3	In_Frame_Ins	INS	ENST00000555744.1	37	CCDS32148.1																																																																																				0.629	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
FAM174B	400451	hgsc.bcm.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707|rs111725167|rs68056278	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	TGGAGC	TGGAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)agctccaac>aac	p.SS69del	FAM174B_ENST00000555696.1_5'Flank|FAM174B_ENST00000555748.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714														4884	0.97524	0.9092	0.9942	5008	,	,		6551	1.0		1.0	False		,,,				2504	1.0																0			15								1931,417		927,77,170						2.2	1.0		dbSNP_130	8	5234,70		2614,6,32	no	coding	FAM174B	NM_207446.2		3541,83,202	A1A1,A1R,RR		1.3198,17.7598,6.3643				7165,487				90999688	SO:0001651	inframe_deletion	400451				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.206_211delGCTCCA	15.37:g.93198685_93198690delTGGAGC	ENSP00000329040:p.Ser69_Ser70del		90999683	Q3ZCR9|Q8NBH7	In_Frame_Del	DEL	ENST00000327355.5	37	CCDS45355.1																																																																																				0.714	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446	
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
RNF213	57674	hgsc.bcm.edu	37	17	78360567	78360567	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:78360567delT	ENST00000582970.1	+	63	14941	c.14798delT	c.(14797-14799)attfs	p.I4933fs	RNF213_ENST00000336301.6_Frame_Shift_Del_p.I3006fs|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Frame_Shift_Del_p.I4982fs|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4933					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTCCACTGATTCTCTCCAAC	0.572																																																	0			17											76.0	68.0	71.0					17																	78360567		2203	4300	6503	75975162	SO:0001589	frameshift_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14798delT	17.37:g.78360567delT	ENSP00000464087:p.Ile4933fs		75975162	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	ENST00000582970.1	37	CCDS58606.1																																																																																				0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
MAP4K1	11184	hgsc.bcm.edu	37	19	39111066	39111074	+	5'Flank	DEL	TCCTGAAGC	TCCTGAAGC	-			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	TCCTGAAGC	TCCTGAAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr19:39111066_39111074delTCCTGAAGC	ENST00000591517.1	-	0	0				MAP4K1_ENST00000589130.1_5'Flank|EIF3K_ENST00000592558.1_Splice_Site_p.LKL51del|EIF3K_ENST00000593149.1_5'UTR|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000538434.1_Intron|EIF3K_ENST00000588934.1_Splice_Site_p.LKL51del|MAP4K1_ENST00000396857.2_5'Flank|EIF3K_ENST00000248342.4_Splice_Site_p.LKL51del|MAP4K1_ENST00000586296.1_5'Flank|EIF3K_ENST00000545173.2_Splice_Site_p.LKL51del	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AACCTGGCTGTCCTGAAGCTGTAAGTGTC	0.531																																																	0			19																																								43802914	SO:0001631	upstream_gene_variant	27335			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918			19.37:g.39111066_39111074delTCCTGAAGC	Exception_encountered		43802906		In_Frame_Del	DEL	ENST00000591517.1	37	CCDS59385.1																																																																																				0.531	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
TOX2	84969	hgsc.bcm.edu	37	20	42694558	42694559	+	In_Frame_Ins	INS	-	-	CCG	rs199841880|rs34604629	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:42694558_42694559insCCG	ENST00000358131.5	+	6	1321_1322	c.1113_1114insCCG	c.(1114-1116)ccg>CCGccg	p.372_372P>PP	TOX2_ENST00000372999.1_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000423191.2_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_In_Frame_Ins_p.390_390P>PP	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	372	Pro-rich.			P -> PP (in Ref. 1; BAF82595). {ECO:0000305}.	female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S347_P348insR(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCAGTGCGTCCCCGCCGCCGCC	0.713														176	0.0351438	0.0045	0.0648	5008	,	,		13049	0.0		0.1044	False		,,,				2504	0.0204																1	Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	20							,,,	79,4179		2,75,2052					,,,	1.5	0.1		dbSNP_126	33	928,7320		58,812,3254	no	coding,coding,coding,coding	TOX2	NM_032883.2,NM_001098798.1,NM_001098797.1,NM_001098796.1	,,,	60,887,5306	A1A1,A1R,RR		11.2512,1.8553,8.0521	,,,	,,,		1007,11499				42127973	SO:0001652	inframe_insertion	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1120_1122dupCCG	20.37:g.42694565_42694567dupCCG	ENSP00000350849:p.Pro376dup		42127972	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	In_Frame_Ins	INS	ENST00000358131.5	37	CCDS42875.1																																																																																				0.713	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
PLCH2	9651	hgsc.bcm.edu	37	1	2430086	2430087	+	Splice_Site	INS	-	-	GTGGGGGCC	rs142848828		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:2430086_2430087insGTGGGGGCC	ENST00000419816.2	+	17	2623	c.2349_2349insGTGGGGGCC	c.(2350-2352)atc>atGTGGGGGCCc	p.784_784I>MWGP	PLCH2_ENST00000378488.3_Splice_Site_p.748_748I>MWGP|PLCH2_ENST00000449969.1_Splice_Site_p.757_757I>MWGP|PLCH2_ENST00000378486.3_Splice_Site_p.784_784I>MWGP|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	784	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACCGTGGGGAGGTGGGGGCCAG	0.703																																																	2	Insertion - In frame(2)	central_nervous_system(2)	1								34,3260		6,22,1619						4.8	1.0		dbSNP_134	6	360,6988		44,272,3358	no	coding-near-splice	PLCH2	NM_014638.2		50,294,4977	A1A1,A1R,RR		4.8993,1.0322,3.7023				394,10248				2419947	SO:0001630	splice_region_variant	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.2349+1->GTGGGGGCC	1.37:g.2430087_2430095dupGTGGGGGCC			2419946	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	In_Frame_Ins	INS	ENST00000419816.2	37																																																																																					0.703	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467514.1	NM_014638	In_Frame_Ins
PHACTR4	65979	hgsc.bcm.edu	37	1	28785730	28785730	+	Frame_Shift_Del	DEL	A	A	-	rs550399400		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr1:28785730delA	ENST00000373839.3	+	3	412	c.151delA	c.(151-153)aaafs	p.K53fs	PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	53					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.S64fs*12(3)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GAAATGGAGGAAAAAAAAAAG	0.393																																																	3	Deletion - Frameshift(3)	ovary(2)|breast(1)	1							,	74,3472		1,72,1700	69.0	66.0	67.0		,	4.4	1.0	1		71	172,7652		3,166,3743	no	frameshift,frameshift	PHACTR4	NM_023923.3,NM_001048183.1	,	4,238,5443	A1A1,A1R,RR		2.1984,2.0869,2.1636	,	,	28785730	246,11124	1842	4093	5935	28658317	SO:0001589	frameshift_variant	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.151delA	1.37:g.28785730delA	ENSP00000362945:p.Lys53fs		28658317	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Frame_Shift_Del	DEL	ENST00000373839.3	37	CCDS41293.1																																																																																				0.393	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
ZNF717	100131827	hgsc.bcm.edu	37	3	75786315	75786323	+	In_Frame_Del	DEL	CTACATTCT	CTACATTCT	-	rs146447046|rs202196860		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	CTACATTCT	CTACATTCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:75786315_75786323delCTACATTCT	ENST00000478296.1	-	4	2577_2585	c.2301_2309delAGAATGTAG	c.(2299-2310)aaagaatgtagg>aag	p.ECR768del	ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000422325.1_In_Frame_Del_p.ECR818del|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_In_Frame_Del_p.ECR811del			Q9BY31	ZN717_HUMAN	zinc finger protein 717	808					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GAAGGTTTTCCTACATTCTTTACATTCAA	0.383																																																	0			3																																								75869013	SO:0001651	inframe_deletion	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.2301_2309delAGAATGTAG	3.37:g.75786315_75786323delCTACATTCT	ENSP00000419377:p.Glu768_Arg770del		75869005		In_Frame_Del	DEL	ENST00000478296.1	37																																																																																					0.383	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
MUC4	4585	hgsc.bcm.edu	37	3	195512550	195512597	+	In_Frame_Del	DEL	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	-	rs6799339|rs71254296|rs150659095|rs558165743|rs576374543|rs537525175|rs566422076|rs199625793|rs539429280	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	GGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr3:195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENST00000463781.3	-	2	6313_6360	c.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	c.(5854-5901)cctcttcctgtcaccgacgcttcctcagtacccacaggtcacgccaccdel	p.PLPVTDASSVPTGHAT1952del	MUC4_ENST00000475231.1_In_Frame_Del_p.PLPVTDASSVPTGHAT1952del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	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.P1952_T1967delPLPVTDASSVPTGHAT(4)|p.P1952S(1)|p.V1961V(1)|p.P1962S(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)		CAGGAAGAGAGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGGGGTGGTGTGA	0.601																																																	7	Deletion - In frame(4)|Substitution - Missense(2)|Substitution - coding silent(1)	stomach(4)|endometrium(3)	3																																								196996992	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.5854_5901delCCTCTTCCTGTCACCGACGCTTCCTCAGTACCCACAGGTCACGCCACC	3.37:g.195512550_195512597delGGTGGCGTGACCTGTGGGTACTGAGGAAGCGTCGGTGACAGGAAGAGG	ENSP00000417498:p.Pro1952_Thr1967del		196996945	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																																																																																				0.601	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000352435.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P|PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000265462.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
BCL9L	283149	hgsc.bcm.edu	37	11	118770651	118770652	+	Frame_Shift_Ins	INS	-	-	G	rs139987150		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr11:118770651_118770652insG	ENST00000334801.3	-	7	4344_4345	c.3380_3381insC	c.(3379-3381)ccafs	p.P1127fs	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	1127	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GCGGTGGTGGTGGGGGGGGCAG	0.703																																																	0			11								27,4235		0,27,2104						-5.2	0.6			35	32,8218		0,32,4093	no	frameshift	BCL9L	NM_182557.2		0,59,6197	A1A1,A1R,RR		0.3879,0.6335,0.4715				59,12453				118275862	SO:0001589	frameshift_variant	283149			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.3381dupC	11.37:g.118770659_118770659dupG	ENSP00000335320:p.Pro1127fs		118275861	A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Frame_Shift_Ins	INS	ENST00000334801.3	37	CCDS8403.1																																																																																				0.703	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389653.1	NM_182557	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs|KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs		51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				0.599	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
IFI27	3429	hgsc.bcm.edu	37	14	94582130	94582131	+	In_Frame_Ins	INS	-	-	GGCCATGGC	rs3833507	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr14:94582130_94582131insGGCCATGGC	ENST00000555744.1	+	4	313_314	c.125_126insGGCCATGGC	c.(124-129)gtggct>gtGGCCATGGCggct	p.43_44insMAA	IFI27_ENST00000444961.1_Splice_Site_p.46_47insMAA|IFI27_ENST00000448882.1_In_Frame_Ins_p.46_47insMAA|IFI27_ENST00000557634.1_In_Frame_Ins_p.33_34insMAA|IFI27_ENST00000298902.5_In_Frame_Ins_p.43_44insMAA|IFI27_ENST00000557098.1_De_novo_Start_InFrame			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.A43_V44insMAA(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CCTGCAGTTGTGGCTGTGCCCA	0.629														3294	0.657748	0.8306	0.5591	5008	,	,		18519	0.5486		0.6282	False		,,,				2504	0.637				GBM(128;797 1667 20895 29868 47129)												1	Insertion - In frame(1)	breast(1)	14								3129,1037		1234,661,188						-1.5	0.0		dbSNP_107	13	4889,3239		1588,1713,763	no	coding	IFI27	NM_005532.3		2822,2374,951	A1A1,A1R,RR		39.8499,24.892,34.7812				8018,4276				93651884	SO:0001652	inframe_insertion	3429			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	Exception_encountered	14.37:g.94582130_94582131insGGCCATGGC	ENSP00000451956:p.Ala43_Val44insMetAlaAla		93651883	Q53YA6|Q6IEC1|Q96BK3	In_Frame_Ins	INS	ENST00000555744.1	37	CCDS32148.1																																																																																				0.629	IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
FAM174B	400451	hgsc.bcm.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707|rs111725167|rs68056278	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	TGGAGC	TGGAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)agctccaac>aac	p.SS69del	FAM174B_ENST00000555696.1_5'Flank|FAM174B_ENST00000555748.1_5'Flank	NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral component of membrane (GO:0016021)				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714														4884	0.97524	0.9092	0.9942	5008	,	,		6551	1.0		1.0	False		,,,				2504	1.0																0			15								1931,417		927,77,170						2.2	1.0		dbSNP_130	8	5234,70		2614,6,32	no	coding	FAM174B	NM_207446.2		3541,83,202	A1A1,A1R,RR		1.3198,17.7598,6.3643				7165,487				90999688	SO:0001651	inframe_deletion	400451				CCDS45355.1	15q26.1	2012-10-03			ENSG00000185442	ENSG00000185442			34339	protein-coding gene	gene with protein product							Standard	NM_207446		Approved	LOC400451, MGC102891	uc010boe.3	Q3ZCQ3	OTTHUMG00000171744	ENST00000327355.5:c.206_211delGCTCCA	15.37:g.93198685_93198690delTGGAGC	ENSP00000329040:p.Ser69_Ser70del		90999683	Q3ZCR9|Q8NBH7	In_Frame_Del	DEL	ENST00000327355.5	37	CCDS45355.1																																																																																				0.714	FAM174B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414931.1	NM_207446	
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
RNF213	57674	hgsc.bcm.edu	37	17	78360567	78360567	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr17:78360567delT	ENST00000582970.1	+	63	14941	c.14798delT	c.(14797-14799)attfs	p.I4933fs	RNF213_ENST00000336301.6_Frame_Shift_Del_p.I3006fs|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Frame_Shift_Del_p.I4982fs|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000427003.3_3'UTR	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4933					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACTCCACTGATTCTCTCCAAC	0.572																																																	0			17											76.0	68.0	71.0					17																	78360567		2203	4300	6503	75975162	SO:0001589	frameshift_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14798delT	17.37:g.78360567delT	ENSP00000464087:p.Ile4933fs		75975162	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Del	DEL	ENST00000582970.1	37	CCDS58606.1																																																																																				0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914	
MAP4K1	11184	hgsc.bcm.edu	37	19	39111066	39111074	+	5'Flank	DEL	TCCTGAAGC	TCCTGAAGC	-			TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	TCCTGAAGC	TCCTGAAGC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr19:39111066_39111074delTCCTGAAGC	ENST00000591517.1	-	0	0				MAP4K1_ENST00000589130.1_5'Flank|EIF3K_ENST00000592558.1_Splice_Site_p.LKL51del|EIF3K_ENST00000593149.1_5'UTR|EIF3K_ENST00000593062.1_3'UTR|EIF3K_ENST00000538434.1_Intron|EIF3K_ENST00000588934.1_Splice_Site_p.LKL51del|MAP4K1_ENST00000396857.2_5'Flank|EIF3K_ENST00000248342.4_Splice_Site_p.LKL51del|MAP4K1_ENST00000586296.1_5'Flank|EIF3K_ENST00000545173.2_Splice_Site_p.LKL51del	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AACCTGGCTGTCCTGAAGCTGTAAGTGTC	0.531																																																	0			19																																								43802914	SO:0001631	upstream_gene_variant	27335			U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918			19.37:g.39111066_39111074delTCCTGAAGC	Exception_encountered		43802906		In_Frame_Del	DEL	ENST00000591517.1	37	CCDS59385.1																																																																																				0.531	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453390.1	NM_001042600	
TOX2	84969	hgsc.bcm.edu	37	20	42694558	42694559	+	In_Frame_Ins	INS	-	-	CCG	rs199841880|rs34604629	byFrequency	TCGA-EI-6508-01A-11D-1733-10	TCGA-EI-6508-10A-01D-1733-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	de5b9d77-af36-4d87-9a59-2cf76efd9e46	c6f9d0e7-8806-4088-ada0-b1ae85374e7f	g.chr20:42694558_42694559insCCG	ENST00000358131.5	+	6	1321_1322	c.1113_1114insCCG	c.(1114-1116)ccg>CCGccg	p.372_372P>PP	TOX2_ENST00000372999.1_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000423191.2_In_Frame_Ins_p.348_348P>PP|TOX2_ENST00000435864.2_3'UTR|TOX2_ENST00000341197.4_In_Frame_Ins_p.390_390P>PP	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	372	Pro-rich.			P -> PP (in Ref. 1; BAF82595). {ECO:0000305}.	female gonad development (GO:0008585)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to gonadotropin (GO:0034698)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S347_P348insR(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TCAGTGCGTCCCCGCCGCCGCC	0.713														176	0.0351438	0.0045	0.0648	5008	,	,		13049	0.0		0.1044	False		,,,				2504	0.0204																1	Insertion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)	20							,,,	79,4179		2,75,2052					,,,	1.5	0.1		dbSNP_126	33	928,7320		58,812,3254	no	coding,coding,coding,coding	TOX2	NM_032883.2,NM_001098798.1,NM_001098797.1,NM_001098796.1	,,,	60,887,5306	A1A1,A1R,RR		11.2512,1.8553,8.0521	,,,	,,,		1007,11499				42127973	SO:0001652	inframe_insertion	84969			BC007636	CCDS13324.1, CCDS42875.1, CCDS46603.1	20q13.12	2007-03-20	2007-03-20	2007-03-20					16095	protein-coding gene	gene with protein product	"""granulosa cell HMG box 1"""	611163	"""chromosome 20 open reading frame 100"""	C20orf100		14764631	Standard	NM_001098796		Approved	dJ1108D11.2, GCX-1	uc010ggo.3	Q96NM4		ENST00000358131.5:c.1120_1122dupCCG	20.37:g.42694565_42694567dupCCG	ENSP00000350849:p.Pro376dup		42127972	A8K1J1|E1P5X0|G3XAC7|Q5TE33|Q5TE34|Q5TE35|Q96IC9|Q9BQN5	In_Frame_Ins	INS	ENST00000358131.5	37	CCDS42875.1																																																																																				0.713	TOX2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079329.2		
