#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Confidence	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	i_dbSNP_PopFreq	i_dbSNP_Strength	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
WDTC1	23038	hgsc.bcm.edu	37	1	27631607	27631607	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:27631607C>T	ENST00000319394.3	+	15	2294	c.1759C>T	c.(1759-1761)Cag>Tag	p.Q587*	WDTC1_ENST00000361771.3_Nonsense_Mutation_p.Q586*	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	587					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)	p.Q586*(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CAACTGCCTGCAGCCACACCC	0.597																																					p.Q587X		Atlas-SNP	.											WDTC1,NS,carcinoma,0,1	WDTC1	69	.	1	Substitution - Nonsense(1)	endometrium(1)	c.C1759T						PASS	.						101.0	73.0	82.0					1																	27631607		2203	4300	6503	SO:0001587	stop_gained	23038	exon15			TGCCTGCAGCCAC	AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.1759C>T	chr1.hg19:g.27631607C>T	ENSP00000317971:p.Gln587*	69.0	0.0	.		86.0	19.0	.	NM_001276252	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Nonsense_Mutation	SNP	ENST00000319394.3	hg19		.	.	.	.	.	.	.	.	.	.	C	42	9.774571	0.99260	.	.	ENSG00000142784	ENST00000319394;ENST00000361771	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	17.0891	0.86618	0.0:1.0:0.0:0.0	.	.	.	.	X	587;586	.	ENSP00000317971:Q587X	Q	+	1	0	WDTC1	27504194	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.589000	0.67523	2.581000	0.87130	0.455000	0.32223	CAG	.	.	.	none		0.597	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015023	
PHACTR4	65979	hgsc.bcm.edu	37	1	28792196	28792196	+	Splice_Site	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:28792196G>A	ENST00000373839.3	+	5	533	c.272G>A	c.(271-273)gGt>gAt	p.G91D	PHACTR4_ENST00000373836.3_Splice_Site_p.G101D|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	91					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)			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)		CACCTTGCAGGTGGTGAGGAT	0.408																																					p.G101D		Atlas-SNP	.											.	PHACTR4	64	.	0			c.G302A						PASS	.						133.0	127.0	129.0					1																	28792196		1913	4126	6039	SO:0001630	splice_region_variant	65979	exon4			TTGCAGGTGGTGA	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.272-1G>A	chr1.hg19:g.28792196G>A		114.0	0.0	.		108.0	29.0	.	NM_023923	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	0.368	-0.935524	0.02340	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.35421	1.31;1.31	5.11	1.1	0.20463	.	0.374471	0.29684	N	0.011468	T	0.17238	0.0414	N	0.17082	0.46	0.24318	N	0.995057	B;B;B	0.14805	0.011;0.007;0.011	B;B;B	0.16722	0.016;0.004;0.01	T	0.17961	-1.0352	9	.	.	.	.	4.5085	0.11899	0.3516:0.1562:0.4922:0.0	.	101;91;75	Q8IZ21-2;Q8IZ21;Q8IZ21-3	.;PHAR4_HUMAN;.	D	91;101;90	ENSP00000362945:G91D;ENSP00000362942:G101D	.	G	+	2	0	PHACTR4	28664783	0.981000	0.34729	0.336000	0.25522	0.672000	0.39443	1.242000	0.32755	-0.049000	0.13379	0.561000	0.74099	GGT	.	.	.	none		0.408	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	Missense_Mutation
CSMD2	114784	hgsc.bcm.edu	37	1	34008360	34008360	+	Silent	SNP	C	C	A	rs199932348		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:34008360C>A	ENST00000373381.4	-	58	9413	c.9237G>T	c.(9235-9237)tcG>tcT	p.S3079S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3053	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TACCATTGACCGAGCAGTGAC	0.592																																					p.S2935S		Atlas-SNP	.											.	CSMD2	946	.	0			c.G8805T						PASS	.						64.0	53.0	57.0					1																	34008360		2203	4300	6503	SO:0001819	synonymous_variant	114784	exon57			ATTGACCGAGCAG	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9237G>T	chr1.hg19:g.34008360C>A		83.0	0.0	.		85.0	28.0	.	NM_052896	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373381.4	hg19																																																																																				.	C|0.999;T|0.001	.	alt		0.592	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896	
EPS15	2060	hgsc.bcm.edu	37	1	51929372	51929372	+	Silent	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:51929372A>T	ENST00000371733.3	-	7	570	c.474T>A	c.(472-474)tcT>tcA	p.S158S	EPS15_ENST00000371730.2_Silent_p.S158S|RP11-253A20.1_ENST00000424246.1_RNA	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	158	EH 2. {ECO:0000255|PROSITE- ProRule:PRU00077}.|Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGGTAACTTAGAGTTGAGCA	0.333			T	MLL	ALL																																p.S158S		Atlas-SNP	.		Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	.,1	EPS15	72	.	1	Whole gene deletion(1)	central_nervous_system(1)	c.T474A						PASS	.						68.0	66.0	67.0					1																	51929372		2203	4300	6503	SO:0001819	synonymous_variant	2060	exon7			TAACTTAGAGTTG	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.474T>A	chr1.hg19:g.51929372A>T		40.0	0.0	.		58.0	11.0	.	NM_001981	B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	ENST00000371733.3	hg19	CCDS557.1																																																																																			.	.	.	none		0.333	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981	
TMED5	50999	hgsc.bcm.edu	37	1	93621899	93621899	+	Silent	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:93621899A>G	ENST00000370282.3	-	3	914	c.429T>C	c.(427-429)atT>atC	p.I143I	TMED5_ENST00000479918.1_Silent_p.I143I|TMED5_ENST00000370280.1_Silent_p.I143I|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	143					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTGTGCCAGTAATATATTTCT	0.348																																					p.I143I		Atlas-SNP	.											.	TMED5	16	.	0			c.T429C						PASS	.						180.0	171.0	174.0					1																	93621899		2203	4300	6503	SO:0001819	synonymous_variant	50999	exon3			GCCAGTAATATAT	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.429T>C	chr1.hg19:g.93621899A>G		105.0	0.0	.		97.0	24.0	.	NM_001167830	B1AKT4|B2R703|D3DT38|Q96AX8	Silent	SNP	ENST00000370282.3	hg19	CCDS743.1																																																																																			.	.	.	none		0.348	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040	
FMO5	2330	hgsc.bcm.edu	37	1	146658726	146658726	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:146658726A>G	ENST00000254090.4	-	9	1743	c.1355T>C	c.(1354-1356)cTg>cCg	p.L452P	FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000606757.1_RNA|FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	452						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					AGTGAAGGCCAGAGACAGCAG	0.537																																					p.L452P		Atlas-SNP	.											.	FMO5	94	.	0			c.T1355C						PASS	.						86.0	81.0	83.0					1																	146658726		2203	4300	6503	SO:0001583	missense	2330	exon9			AAGGCCAGAGACA	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1355T>C	chr1.hg19:g.146658726A>G	ENSP00000254090:p.Leu452Pro	111.0	0.0	.		119.0	33.0	.	NM_001461	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	ENST00000254090.4	hg19	CCDS926.1	.	.	.	.	.	.	.	.	.	.	.	21.1	4.096346	0.76870	.	.	ENSG00000131781	ENST00000254090	T	0.61742	0.08	5.8	4.67	0.58626	.	0.078821	0.52532	D	0.000071	T	0.76535	0.4001	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.82372	-0.0490	10	0.87932	D	0	-2.7964	10.1529	0.42805	0.9212:0.0:0.0788:0.0	.	452	P49326	FMO5_HUMAN	P	452	ENSP00000254090:L452P	ENSP00000254090:L452P	L	-	2	0	FMO5	145125350	1.000000	0.71417	0.967000	0.41034	0.997000	0.91878	8.981000	0.93465	1.011000	0.39340	0.533000	0.62120	CTG	.	.	.	none		0.537	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461	
ATP1B1	481	hgsc.bcm.edu	37	1	169096621	169096621	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:169096621A>G	ENST00000367816.1	+	5	1071	c.542A>G	c.(541-543)aAc>aGc	p.N181S	ATP1B1_ENST00000367813.3_Missense_Mutation_p.N173S|ATP1B1_ENST00000367815.4_Missense_Mutation_p.N181S|ATP1B1_ENST00000499679.3_Missense_Mutation_p.N125S			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	181					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					ATAAAGCTCAACCGAGTTCTA	0.358																																					p.N181S		Atlas-SNP	.											.	ATP1B1	29	.	0			c.A542G						PASS	.						89.0	87.0	88.0					1																	169096621		2203	4300	6503	SO:0001583	missense	481	exon4			AGCTCAACCGAGT	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	ENST00000367816.1:c.542A>G	chr1.hg19:g.169096621A>G	ENSP00000356790:p.Asn181Ser	111.0	0.0	.		79.0	22.0	.	NM_001677	Q5TGZ3	Missense_Mutation	SNP	ENST00000367816.1	hg19	CCDS1276.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.929242	0.92389	.	.	ENSG00000143153	ENST00000367816;ENST00000367815;ENST00000499679;ENST00000367813	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	H	0.95328	3.655	0.54753	D	0.999982	D	0.89917	1.0	D	0.78314	0.991	T	0.78003	-0.2374	9	0.66056	D	0.02	-8.8621	16.5446	0.84426	1.0:0.0:0.0:0.0	.	181	P05026	AT1B1_HUMAN	S	181;181;125;173	ENSP00000356790:N181S;ENSP00000356789:N181S;ENSP00000423450:N125S;ENSP00000356787:N173S	ENSP00000356787:N173S	N	+	2	0	ATP1B1	167363245	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	8.600000	0.90860	2.311000	0.77944	0.533000	0.62120	AAC	.	.	.	none		0.358	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1		
PPP1R12B	4660	hgsc.bcm.edu	37	1	202464697	202464697	+	Splice_Site	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:202464697G>C	ENST00000608999.1	+	17	2488		c.e17-1		PPP1R12B_ENST00000391959.3_Splice_Site|PPP1R12B_ENST00000367270.4_Splice_Site|PPP1R12B_ENST00000336894.4_Splice_Site|PPP1R12B_ENST00000290419.5_Splice_Site	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B						G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCTCTGGCCAGAGAATGAAGA	0.463																																					.		Atlas-SNP	.											.	PPP1R12B	100	.	0			c.2336-1G>C						PASS	.						51.0	52.0	52.0					1																	202464697		2203	4299	6502	SO:0001630	splice_region_variant	4660	exon17			TGGCCAGAGAATG	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.2336-1G>C	chr1.hg19:g.202464697G>C		81.0	0.0	.		82.0	22.0	.	NM_002481	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Splice_Site	SNP	ENST00000608999.1	hg19	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.710994	0.68730	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000391959;ENST00000367270	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0413	0.86490	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPP1R12B	200731320	1.000000	0.71417	0.983000	0.44433	0.715000	0.41141	4.311000	0.59147	2.828000	0.97474	0.655000	0.94253	.	.	.	.	none		0.463	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105	Intron
FCAMR	83953	hgsc.bcm.edu	37	1	207131928	207131928	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:207131928A>T	ENST00000324852.4	-	8	2141	c.1667T>A	c.(1666-1668)aTg>aAg	p.M556K	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000486178.1_5'UTR|FCAMR_ENST00000400962.3_3'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	511					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						ATCCTGGAGCATCTTTCTTTC	0.537																																					p.M556K	Ovarian(199;1883 2142 16966 44409 45154)	Atlas-SNP	.											.	FCAMR	125	.	0			c.T1667A						PASS	.						109.0	100.0	103.0					1																	207131928		692	1591	2283	SO:0001583	missense	83953	exon8			TGGAGCATCTTTC	AF354295	CCDS41460.1, CCDS53468.1	1q32.1	2013-01-14			ENSG00000162897	ENSG00000162897		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	24692	protein-coding gene	gene with protein product		605484				11779189	Standard	NM_001122979		Approved	FKSG87, FCA/MR, CD351	uc001hfa.4	Q8WWV6	OTTHUMG00000036579	ENST00000324852.4:c.1667T>A	chr1.hg19:g.207131928A>T	ENSP00000316491:p.Met556Lys	87.0	0.0	.		79.0	18.0	.	NM_001170631	Q32M82|Q8WWV5|Q96SA2	Missense_Mutation	SNP	ENST00000324852.4	hg19	CCDS53468.1	.	.	.	.	.	.	.	.	.	.	A	15.87	2.960491	0.53400	.	.	ENSG00000162897	ENST00000324852;ENST00000367087	T	0.05139	3.49	4.73	-0.538	0.11868	.	0.830835	0.10440	N	0.674376	T	0.04679	0.0127	L	0.48642	1.525	0.09310	N	1	P;P	0.39551	0.483;0.678	B;B	0.33690	0.118;0.168	T	0.38001	-0.9681	10	0.87932	D	0	0.0976	0.44	0.00484	0.4307:0.186:0.2041:0.1791	.	531;511	D2KTA8;Q8WWV6	.;FCAMR_HUMAN	K	556;514	ENSP00000316491:M556K	ENSP00000316491:M556K	M	-	2	0	FCAMR	205198551	0.000000	0.05858	0.001000	0.08648	0.564000	0.35744	-0.017000	0.12590	0.266000	0.21894	0.459000	0.35465	ATG	.	.	.	none		0.537	FCAMR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088969.2	NM_032029	
CDC42BPA	8476	hgsc.bcm.edu	37	1	227182594	227182594	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:227182594G>T	ENST00000366769.3	-	35	6249	c.4958C>A	c.(4957-4959)tCa>tAa	p.S1653*	RP5-1087E8.3_ENST00000433837.1_RNA|CDC42BPA_ENST00000366764.2_Nonsense_Mutation_p.S1625*|CDC42BPA_ENST00000366766.2_Nonsense_Mutation_p.S1688*|CDC42BPA_ENST00000334218.5_Nonsense_Mutation_p.S1715*|CDC42BPA_ENST00000535525.1_Nonsense_Mutation_p.S1633*|CDC42BPA_ENST00000366765.3_Nonsense_Mutation_p.S1666*|CDC42BPA_ENST00000366767.3_Nonsense_Mutation_p.S1572*	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGAGCCCTCTGACGGGGAGGG	0.582																																					p.S1653X		Atlas-SNP	.											CDC42BPA_ENST00000366769,NS,carcinoma,0,3	CDC42BPA	528	.	0			c.C4958A						PASS	.						93.0	91.0	92.0					1																	227182594		2203	4300	6503	SO:0001587	stop_gained	8476	exon35			CCCTCTGACGGGG	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.4958C>A	chr1.hg19:g.227182594G>T	ENSP00000355731:p.Ser1653*	59.0	0.0	.		40.0	9.0	.	NM_003607		Nonsense_Mutation	SNP	ENST00000366769.3	hg19	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	g	43	9.953409	0.99303	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	.	.	.	5.09	5.09	0.68999	.	0.132428	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	18.5149	0.90933	0.0:0.0:1.0:0.0	.	.	.	.	X	1653;1572;1715;1688;1625;1633;1666	.	ENSP00000335341:S1715X	S	-	2	0	CDC42BPA	225249217	1.000000	0.71417	0.100000	0.21137	0.917000	0.54804	7.341000	0.79300	2.367000	0.80283	0.651000	0.88453	TCA	.	.	.	none		0.582	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
OBSCN	84033	hgsc.bcm.edu	37	1	228482711	228482711	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:228482711C>A	ENST00000422127.1	+	43	11670	c.11626C>A	c.(11626-11628)Cag>Aag	p.Q3876K	OBSCN_ENST00000366709.4_Missense_Mutation_p.Q995K|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q995K|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.Q2723K|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q3876K|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q4305K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3876	Ig-like 39.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGTGCGGGCAGGAGAGGAC	0.582																																					p.Q4305K		Atlas-SNP	.											.	OBSCN	2142	.	0			c.C12913A						PASS	.						120.0	122.0	121.0					1																	228482711		2147	4242	6389	SO:0001583	missense	84033	exon48			TGCGGGCAGGAGA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11626C>A	chr1.hg19:g.228482711C>A	ENSP00000409493:p.Gln3876Lys	161.0	0.0	.		117.0	29.0	.	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	C	16.58	3.163675	0.57476	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.01	4.06	0.47325	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.406049	0.23692	N	0.045504	T	0.44307	0.1287	N	0.20304	0.555	0.30201	N	0.798588	B;B	0.23854	0.092;0.059	B;B	0.25987	0.065;0.018	T	0.35871	-0.9771	10	0.06494	T	0.89	.	8.1272	0.31005	0.1337:0.6027:0.2636:0.0	.	3876;3876	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	3876;3876;995;995;2723	ENSP00000284548:Q3876K;ENSP00000409493:Q3876K;ENSP00000355668:Q995K;ENSP00000355670:Q995K;ENSP00000352613:Q2723K	ENSP00000284548:Q3876K	Q	+	1	0	OBSCN	226549334	0.000000	0.05858	1.000000	0.80357	0.794000	0.44872	0.274000	0.18680	2.611000	0.88343	0.563000	0.77884	CAG	.	.	.	none		0.582	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
AAK1	22848	hgsc.bcm.edu	37	2	69732772	69732772	+	Missense_Mutation	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:69732772T>A	ENST00000409085.4	-	16	2574	c.2198A>T	c.(2197-2199)gAg>gTg	p.E733V	AAK1_ENST00000406297.3_Missense_Mutation_p.E733V|AAK1_ENST00000409068.1_Intron	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	733					endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GATCAAACTCTCAGCTGAGCC	0.493																																					p.E733V		Atlas-SNP	.											.	AAK1	121	.	0			c.A2198T						PASS	.						78.0	78.0	78.0					2																	69732772		1895	4114	6009	SO:0001583	missense	22848	exon16			AAACTCTCAGCTG	AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2198A>T	chr2.hg19:g.69732772T>A	ENSP00000386456:p.Glu733Val	85.0	0.0	.		87.0	29.0	.	NM_014911	Q4ZFZ3|Q53RX6|Q9UPV4	Missense_Mutation	SNP	ENST00000409085.4	hg19	CCDS1893.2	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711046	0.68730	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	T;T	0.36340	1.26;1.26	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.49558	0.1564	L	0.34521	1.04	0.49915	D	0.999833	D;D;P	0.76494	0.998;0.999;0.492	D;D;B	0.80764	0.987;0.994;0.219	T	0.51601	-0.8685	10	0.72032	D	0.01	-22.5886	14.7584	0.69588	0.0:0.0:0.0:1.0	.	733;733;733	B7ZLC4;Q2M2I8-2;Q2M2I8	.;.;AAK1_HUMAN	V	733	ENSP00000386456:E733V;ENSP00000385181:E733V	ENSP00000385181:E733V	E	-	2	0	AAK1	69586276	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.833000	0.55790	2.161000	0.67846	0.533000	0.62120	GAG	.	.	.	none		0.493	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251847.4	NM_014911	
FAM136A	84908	hgsc.bcm.edu	37	2	70529069	70529069	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:70529069G>C	ENST00000037869.3	-	1	153	c.75C>G	c.(73-75)atC>atG	p.I25M	AC022201.5_ENST00000445084.1_RNA|FAM136A_ENST00000450256.1_Missense_Mutation_p.I25M|FAM136A_ENST00000430566.1_Missense_Mutation_p.I25M	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A	25						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GCATCTTCCGGATGTTCTCTC	0.687											OREG0014676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.I25M		Atlas-SNP	.											.	FAM136A	14	.	0			c.C75G						PASS	.						62.0	52.0	56.0					2																	70529069		2203	4299	6502	SO:0001583	missense	84908	exon1			CTTCCGGATGTTC	BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.75C>G	chr2.hg19:g.70529069G>C	ENSP00000037869:p.Ile25Met	95.0	0.0	.	1123	102.0	25.0	.	NM_032822	Q96SS3	Missense_Mutation	SNP	ENST00000037869.3	hg19	CCDS1904.1	.	.	.	.	.	.	.	.	.	.	G	13.70	2.315072	0.40996	.	.	ENSG00000035141	ENST00000037869;ENST00000450256;ENST00000430566;ENST00000438759	.	.	.	3.81	3.81	0.43845	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.86178	2.8	0.25158	N	0.990371	D	0.64830	0.994	D	0.65773	0.938	T	0.56998	-0.7886	9	0.40728	T	0.16	.	8.7433	0.34571	0.1086:0.0:0.8914:0.0	.	25	Q96C01	F136A_HUMAN	M	25;25;25;10	.	ENSP00000037869:I25M	I	-	3	3	FAM136A	70382573	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	5.161000	0.64935	2.124000	0.65301	0.195000	0.17529	ATC	.	.	.	none		0.687	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251869.2	NM_032822	
RTKN	6242	hgsc.bcm.edu	37	2	74657138	74657138	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:74657138A>G	ENST00000233330.6	-	6	739	c.422T>C	c.(421-423)cTg>cCg	p.L141P	RTKN_ENST00000272430.5_Missense_Mutation_p.L191P|RTKN_ENST00000305557.5_Missense_Mutation_p.L178P|RTKN_ENST00000484453.1_5'Flank	NM_001015056.1	NP_001015056.1			rhotekin											endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						CTCTAACCGCAGTTCAAAGTC	0.637																																					p.L191P		Atlas-SNP	.											.	RTKN	80	.	0			c.T572C						PASS	.						44.0	50.0	48.0					2																	74657138		2177	4287	6464	SO:0001583	missense	6242	exon6			AACCGCAGTTCAA	AF049227	CCDS1941.1, CCDS33226.1, CCDS42699.1	2p13.1	2013-01-10			ENSG00000114993	ENSG00000114993		"""Pleckstrin homology (PH) domain containing"""	10466	protein-coding gene	gene with protein product		602288				9073523, 10940294	Standard	XM_005264478		Approved	B5	uc002sle.3	Q9BST9	OTTHUMG00000129955	ENST00000233330.6:c.422T>C	chr2.hg19:g.74657138A>G	ENSP00000233330:p.Leu141Pro	131.0	0.0	.		128.0	32.0	.	NM_001015055		Missense_Mutation	SNP	ENST00000233330.6	hg19	CCDS42699.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.446605	0.84101	.	.	ENSG00000114993	ENST00000305557;ENST00000272430;ENST00000233330	T;T;T	0.50548	0.74;0.74;0.74	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.66557	0.2801	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70450	-0.4868	10	0.87932	D	0	.	12.7821	0.57483	1.0:0.0:0.0:0.0	.	191;178	Q9BST9;Q9BST9-2	RTKN_HUMAN;.	P	178;191;141	ENSP00000305298:L178P;ENSP00000272430:L191P;ENSP00000233330:L141P	ENSP00000233330:L141P	L	-	2	0	RTKN	74510646	1.000000	0.71417	0.985000	0.45067	0.858000	0.48976	8.586000	0.90806	2.117000	0.64856	0.459000	0.35465	CTG	.	.	.	none		0.637	RTKN-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328236.3	NM_001015055	
TTN	7273	hgsc.bcm.edu	37	2	179482094	179482094	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:179482094C>G	ENST00000591111.1	-	204	43019	c.42795G>C	c.(42793-42795)tgG>tgC	p.W14265C	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W13338C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W6966C|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W7033C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.W15906C|TTN_ENST00000460472.2_Missense_Mutation_p.W6841C			Q8WZ42	TITIN_HUMAN	titin	14265	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCAACGAATCCAATTATCTT	0.378																																					p.W15906C		Atlas-SNP	.											.	TTN	18412	.	0			c.G47718C						PASS	.						104.0	92.0	96.0					2																	179482094		1853	4092	5945	SO:0001583	missense	7273	exon254			ACGAATCCAATTA	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.42795G>C	chr2.hg19:g.179482094C>G	ENSP00000465570:p.Trp14265Cys	140.0	0.0	.		115.0	23.0	.	NM_001267550	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	hg19		.	.	.	.	.	.	.	.	.	.	C	12.62	1.992752	0.35131	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.93	5.93	0.95920	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76793	0.4037	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80369	-0.1411	9	0.87932	D	0	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	6841;6966;7033;14265	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	13338;6841;7033;6966;6841	ENSP00000343764:W13338C;ENSP00000434586:W6841C;ENSP00000340554:W7033C;ENSP00000352154:W6966C	ENSP00000340554:W7033C	W	-	3	0	TTN	179190339	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.770000	0.85390	2.808000	0.96608	0.655000	0.94253	TGG	.	.	.	none		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAH12	201625	hgsc.bcm.edu	37	3	57419487	57419487	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:57419487G>A	ENST00000351747.2	-	31	4835	c.4655C>T	c.(4654-4656)aCt>aTt	p.T1552I		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	1552	AAA 2. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATTCATTAAAGTTAGCGTATC	0.363																																					p.T1552I		Atlas-SNP	.											.	DNAH12	182	.	0			c.C4655T						PASS	.						177.0	157.0	163.0					3																	57419487		692	1591	2283	SO:0001583	missense	201625	exon31			ATTAAAGTTAGCG	U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.4655C>T	chr3.hg19:g.57419487G>A	ENSP00000295937:p.Thr1552Ile	75.0	0.0	.		78.0	16.0	.	NM_178504	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	ENST00000351747.2	hg19		.	.	.	.	.	.	.	.	.	.	G	6.016	0.371430	0.11409	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	T;T	0.26223	1.91;1.75	5.73	2.83	0.33086	ATPase, dynein-related, AAA domain (1);	.	.	.	.	T	0.42562	0.1208	M	0.85041	2.73	0.46222	D	0.998934	P	0.38335	0.627	P	0.46076	0.503	T	0.41910	-0.9482	9	0.45353	T	0.12	.	13.9721	0.64247	0.0:0.2366:0.6588:0.1046	.	1552	Q6ZR08	DYH12_HUMAN	I	1552;1575	ENSP00000295937:T1552I;ENSP00000418137:T1575I	ENSP00000295937:T1552I	T	-	2	0	DNAH12	57394527	1.000000	0.71417	0.550000	0.28217	0.030000	0.12068	3.845000	0.55880	0.348000	0.23949	-0.795000	0.03280	ACT	.	.	.	none		0.363	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_178504	
DNAJC13	23317	hgsc.bcm.edu	37	3	132165336	132165336	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:132165336C>T	ENST00000260818.6	+	3	334	c.86C>T	c.(85-87)tCa>tTa	p.S29L	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	29					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CGTGTCTTTTCAGTTGGAACT	0.303																																					p.S29L		Atlas-SNP	.											.	DNAJC13	253	.	0			c.C86T						PASS	.						84.0	81.0	82.0					3																	132165336		2203	4300	6503	SO:0001583	missense	23317	exon3			TCTTTTCAGTTGG	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.86C>T	chr3.hg19:g.132165336C>T	ENSP00000260818:p.Ser29Leu	77.0	0.0	.		93.0	26.0	.	NM_015268	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	ENST00000260818.6	hg19	CCDS33857.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.970699	0.92919	.	.	ENSG00000138246	ENST00000260818	T	0.19669	2.13	5.53	5.53	0.82687	.	0.075189	0.56097	D	0.000030	T	0.28830	0.0715	M	0.67953	2.075	0.80722	D	1	B;P	0.43750	0.206;0.816	B;B	0.39068	0.063;0.289	T	0.12785	-1.0534	10	0.87932	D	0	.	19.4758	0.94987	0.0:1.0:0.0:0.0	.	29;29	A7E2Y5;O75165	.;DJC13_HUMAN	L	29	ENSP00000260818:S29L	ENSP00000260818:S29L	S	+	2	0	DNAJC13	133648026	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	7.818000	0.86416	2.607000	0.88179	0.563000	0.77884	TCA	.	.	.	none		0.303	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	NM_015268	
PSMD2	5708	hgsc.bcm.edu	37	3	184020504	184020504	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:184020504C>A	ENST00000310118.4	+	7	1459	c.901C>A	c.(901-903)Cat>Aat	p.H301N	PSMD2_ENST00000439383.1_Missense_Mutation_p.H171N|PSMD2_ENST00000435761.1_Missense_Mutation_p.H142N|EIF2B5_ENST00000444495.1_Intron	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	301					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)	p.H301Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GCTAGGCCGGCATGGGGTGTT	0.517																																					p.H301N	Colon(24;313 636 6917 9932 15554)	Atlas-SNP	.											PSMD2,NS,carcinoma,0,1	PSMD2	56	.	1	Substitution - Missense(1)	prostate(1)	c.C901A						PASS	.						148.0	146.0	147.0					3																	184020504		2203	4300	6503	SO:0001583	missense	5708	exon7			GGCCGGCATGGGG	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.901C>A	chr3.hg19:g.184020504C>A	ENSP00000310129:p.His301Asn	97.0	0.0	.		69.0	17.0	.	NM_002808	B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	hg19	CCDS3258.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.574928	0.65878	.	.	ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383	T;T;T	0.32272	2.09;1.46;1.46	5.16	5.16	0.70880	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36110	0.0955	M	0.64170	1.965	0.80722	D	1	P;B	0.36789	0.57;0.118	B;B	0.35114	0.196;0.054	T	0.33548	-0.9864	10	0.72032	D	0.01	-18.9005	19.2107	0.93753	0.0:1.0:0.0:0.0	.	142;301	E9PCS3;Q13200	.;PSMD2_HUMAN	N	301;293;142;171	ENSP00000310129:H301N;ENSP00000402618:H142N;ENSP00000416028:H171N	ENSP00000310129:H301N	H	+	1	0	PSMD2	185503198	1.000000	0.71417	0.994000	0.49952	0.953000	0.61014	7.207000	0.77899	2.845000	0.97973	0.603000	0.83216	CAT	.	.	.	none		0.517	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808	
KNG1	3827	hgsc.bcm.edu	37	3	186459563	186459563	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr3:186459563G>T	ENST00000265023.4	+	10	1590	c.1378G>T	c.(1378-1380)Ggc>Tgc	p.G460C	RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000596632.1_RNA|RP11-573D15.8_ENST00000609652.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000609726.1_RNA|RP11-573D15.8_ENST00000596329.1_RNA|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	460	His-rich.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAGAGGACATGGCCTTGGCCA	0.478																																					p.G460C		Atlas-SNP	.											.	KNG1	129	.	0			c.G1378T						PASS	.						77.0	74.0	75.0					3																	186459563		2079	4216	6295	SO:0001583	missense	3827	exon10			GGACATGGCCTTG		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1378G>T	chr3.hg19:g.186459563G>T	ENSP00000265023:p.Gly460Cys	214.0	0.0	.		177.0	45.0	.	NM_001102416	A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	hg19	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991379	0.35131	.	.	ENSG00000113889	ENST00000265023	T	0.76186	-1.0	5.85	3.96	0.45880	.	0.134445	0.34750	N	0.003704	T	0.68686	0.3028	M	0.76574	2.34	0.80722	D	1	B	0.28783	0.222	B	0.25759	0.063	T	0.66122	-0.6002	9	.	.	.	-2.8329	7.0488	0.25061	0.0857:0.0:0.744:0.1703	.	460	P01042	KNG1_HUMAN	C	460	ENSP00000265023:G460C	.	G	+	1	0	KNG1	187942257	0.999000	0.42202	0.470000	0.27216	0.065000	0.16274	3.350000	0.52224	1.636000	0.50526	-0.136000	0.14681	GGC	.	.	.	none		0.478	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416	
FBXL5	26234	hgsc.bcm.edu	37	4	15638133	15638133	+	Silent	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:15638133A>G	ENST00000341285.3	-	5	874	c.750T>C	c.(748-750)ccT>ccC	p.P250P	FBXL5_ENST00000382358.4_Silent_p.P124P|FBXL5_ENST00000412094.2_Silent_p.P233P	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	250					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						cccaatgaacagggtaaagat	0.373																																					p.P250P		Atlas-SNP	.											.	FBXL5	52	.	0			c.T750C						PASS	.						76.0	65.0	69.0					4																	15638133		2203	4300	6503	SO:0001819	synonymous_variant	26234	exon5			ATGAACAGGGTAA	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.750T>C	chr4.hg19:g.15638133A>G		91.0	0.0	.		121.0	28.0	.	NM_012161	A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Silent	SNP	ENST00000341285.3	hg19	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	A	8.941	0.965827	0.18583	.	.	ENSG00000118564	ENST00000513163	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	T	0.62768	0.2455	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61950	-0.6957	4	.	.	.	-26.0422	10.7035	0.45942	0.8576:0.0:0.0:0.1424	.	.	.	.	R	171	.	.	C	-	1	0	FBXL5	15247231	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.656000	0.37355	2.121000	0.65114	0.482000	0.46254	TGT	.	.	.	none		0.373	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2		
SLC34A2	10568	hgsc.bcm.edu	37	4	25667838	25667838	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:25667838G>C	ENST00000382051.3	+	5	518	c.468G>C	c.(466-468)ttG>ttC	p.L156F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L155F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L155F|SLC34A2_ENST00000510033.2_3'UTR	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	156					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGACCGTCTTGGTGCAGAGCT	0.542			T	ROS1	NSCLC																																p.L156F		Atlas-SNP	.		Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	.	SLC34A2	93	.	0			c.G468C						PASS	.						133.0	123.0	126.0					4																	25667838		2203	4300	6503	SO:0001583	missense	10568	exon5			CGTCTTGGTGCAG	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.468G>C	chr4.hg19:g.25667838G>C	ENSP00000371483:p.Leu156Phe	52.0	0.0	.		71.0	28.0	.	NM_006424	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	ENST00000382051.3	hg19	CCDS3435.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554825	0.45487	.	.	ENSG00000157765	ENST00000513204;ENST00000504570;ENST00000382051;ENST00000503434;ENST00000507530	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	5.22	3.48	0.39840	.	0.417009	0.25890	N	0.027622	D	0.95557	0.8556	H	0.96269	3.795	0.39001	D	0.95935	P;D	0.53619	0.952;0.961	P;P	0.62649	0.807;0.905	D	0.95577	0.8643	10	0.66056	D	0.02	-6.4871	12.5273	0.56093	0.0:0.1133:0.6559:0.2308	.	155;156	O95436-2;O95436	.;NPT2B_HUMAN	F	155;155;156;155;156	ENSP00000423038:L155F;ENSP00000425501:L155F;ENSP00000371483:L156F;ENSP00000423021:L155F;ENSP00000424266:L156F	ENSP00000371483:L156F	L	+	3	2	SLC34A2	25276936	1.000000	0.71417	0.820000	0.32676	0.765000	0.43378	2.164000	0.42387	0.301000	0.22738	-1.268000	0.01426	TTG	.	.	.	none		0.542	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424	
RNF150	57484	hgsc.bcm.edu	37	4	141868823	141868823	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:141868823C>T	ENST00000515673.2	-	4	908	c.875G>A	c.(874-876)cGg>cAg	p.R292Q	RNF150_ENST00000507500.1_Missense_Mutation_p.R292Q|RNF150_ENST00000306799.3_Missense_Mutation_p.R250Q|RNF150_ENST00000379512.2_Missense_Mutation_p.R151Q|RNF150_ENST00000420921.2_Missense_Mutation_p.R151Q|RNF150_ENST00000515057.1_5'UTR			Q9ULK6	RN150_HUMAN	ring finger protein 150	292						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GGGCAGGATCCGGACAACGTC	0.547																																					p.R292Q		Atlas-SNP	.											.	RNF150	94	.	0			c.G875A						PASS	.						149.0	116.0	127.0					4																	141868823		2203	4300	6503	SO:0001583	missense	57484	exon4			AGGATCCGGACAA	AB033040	CCDS34065.1	4q31.1	2013-01-09			ENSG00000170153	ENSG00000170153		"""RING-type (C3HC4) zinc fingers"""	23138	protein-coding gene	gene with protein product						10574462	Standard	XM_005263150		Approved	KIAA1214	uc003iio.1	Q9ULK6	OTTHUMG00000161380	ENST00000515673.2:c.875G>A	chr4.hg19:g.141868823C>T	ENSP00000425840:p.Arg292Gln	274.0	0.0	.		337.0	62.0	.	NM_020724	Q3T1D0|Q6ZNW6	Missense_Mutation	SNP	ENST00000515673.2	hg19	CCDS34065.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493712	0.96339	.	.	ENSG00000170153	ENST00000379512;ENST00000420921;ENST00000306799;ENST00000515673;ENST00000507500;ENST00000506101	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.95	5.95	0.96441	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	T	0.72938	0.3523	M	0.90483	3.12	0.80722	D	1	D;D;D	0.89917	0.997;0.986;1.0	D;P;D	0.97110	0.918;0.902;1.0	T	0.77517	-0.2558	10	0.87932	D	0	.	19.1739	0.93594	0.0:1.0:0.0:0.0	.	250;292;292	Q9ULK6-2;Q9ULK6-3;Q9ULK6	.;.;RN150_HUMAN	Q	151;151;250;292;292;123	ENSP00000368827:R151Q;ENSP00000394581:R151Q;ENSP00000304321:R250Q;ENSP00000425840:R292Q;ENSP00000425568:R292Q;ENSP00000425947:R123Q	ENSP00000304321:R250Q	R	-	2	0	RNF150	142088273	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.133000	0.77259	2.827000	0.97445	0.650000	0.86243	CGG	.	.	.	none		0.547	RNF150-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364739.2	XM_291090	
FAT1	2195	hgsc.bcm.edu	37	4	187509944	187509944	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr4:187509944A>T	ENST00000441802.2	-	27	13778	c.13569T>A	c.(13567-13569)taT>taA	p.Y4523*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4523					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTGTCTTTGATACCCTGGCG	0.547										HNSCC(5;0.00058)																											p.Y4523X	Colon(197;1040 2055 4143 4984 49344)	Atlas-SNP	.											.	FAT1	500	.	0			c.T13569A						PASS	.						63.0	72.0	69.0					4																	187509944		2036	4200	6236	SO:0001587	stop_gained	2195	exon27			TCTTTGATACCCT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.13569T>A	chr4.hg19:g.187509944A>T	ENSP00000406229:p.Tyr4523*	134.0	0.0	.		154.0	29.0	.	NM_005245		Nonsense_Mutation	SNP	ENST00000441802.2	hg19	CCDS47177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	53|53	20.095451|20.095451	0.99927|0.99927	.|.	.|.	ENSG00000083857|ENSG00000083857	ENST00000512772|ENST00000441802;ENST00000260147	.|.	.|.	.|.	5.37|5.37	-2.79|-2.79	0.05841|0.05841	.|.	.|0.240542	.|0.45606	.|D	.|0.000360	T|.	0.34658|.	0.0905|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.33189|.	-0.9878|.	4|.	.|0.02654	.|T	.|1	.|.	13.069|13.069	0.59050|0.59050	0.4573:0.0:0.5427:0.0|0.4573:0.0:0.5427:0.0	.|.	.|.	.|.	.|.	T|X	303|4523;4525	.|.	.|ENSP00000260147:Y4525X	S|Y	-|-	1|3	0|2	FAT1|FAT1	187746938|187746938	0.161000|0.161000	0.22892|0.22892	0.498000|0.498000	0.27564|0.27564	0.191000|0.191000	0.23601|0.23601	0.242000|0.242000	0.18087|0.18087	-0.311000|-0.311000	0.08754|0.08754	0.374000|0.374000	0.22700|0.22700	TCA|TAT	.	.	.	none		0.547	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
CDH12	1010	hgsc.bcm.edu	37	5	22078621	22078621	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:22078621G>A	ENST00000382254.1	-	5	1251	c.165C>T	c.(163-165)ggC>ggT	p.G55G	CDH12_ENST00000522262.1_Silent_p.G55G|CDH12_ENST00000504376.2_Silent_p.G55G	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	55	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCCATACCCAGCCACGTTTAA	0.463										HNSCC(59;0.17)																											p.G55G		Atlas-SNP	.											.	CDH12	238	.	0			c.C165T						PASS	.						152.0	151.0	151.0					5																	22078621		2203	4300	6503	SO:0001819	synonymous_variant	1010	exon5			TACCCAGCCACGT	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.165C>T	chr5.hg19:g.22078621G>A		150.0	0.0	.		141.0	47.0	.	NM_004061	B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	ENST00000382254.1	hg19	CCDS3890.1																																																																																			.	.	.	none		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
AP3B1	8546	hgsc.bcm.edu	37	5	77536710	77536710	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:77536710C>A	ENST00000255194.6	-	3	430	c.255G>T	c.(253-255)aaG>aaT	p.K85N	AP3B1_ENST00000519295.1_Missense_Mutation_p.K36N	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	85					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGGCCACATTCTTCACAACAG	0.303									Hermansky-Pudlak syndrome																												p.K85N		Atlas-SNP	.											.	AP3B1	94	.	0			c.G255T						PASS	.						115.0	125.0	122.0					5																	77536710		2203	4295	6498	SO:0001583	missense	8546	exon3	Familial Cancer Database	HPS, HPS1-8	CACATTCTTCACA	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.255G>T	chr5.hg19:g.77536710C>A	ENSP00000255194:p.Lys85Asn	661.0	0.0	.		612.0	150.0	.	NM_003664	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	hg19	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259112	0.80246	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	T;T	0.33654	1.4;1.4	5.33	5.33	0.75918	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.57388	0.2050	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.57207	-0.7851	10	0.46703	T	0.11	-18.0561	12.3808	0.55305	0.0:0.9228:0.0:0.0772	.	85	O00203	AP3B1_HUMAN	N	85;36;85	ENSP00000255194:K85N;ENSP00000430597:K36N	ENSP00000255194:K85N	K	-	3	2	AP3B1	77572466	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.623000	0.54224	2.489000	0.83994	0.591000	0.81541	AAG	.	.	.	none		0.303	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
PRDM6	93166	hgsc.bcm.edu	37	5	122435363	122435363	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:122435363G>A	ENST00000407847.4	+	3	1021	c.607G>A	c.(607-609)Gcg>Acg	p.A203T		NM_001136239.1	NP_001129711.1	Q9NQX0	PRDM6_HUMAN	PR domain containing 6	203					negative regulation of smooth muscle cell differentiation (GO:0051151)|negative regulation of transcription, DNA-templated (GO:0045892)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	7						CGACATGTGCGCGGACAACCG	0.682																																					p.A203T		Atlas-SNP	.											.	PRDM6	26	.	0			c.G607A						PASS	.						6.0	7.0	7.0					5																	122435363		687	1587	2274	SO:0001583	missense	93166	exon3			ATGTGCGCGGACA	AF272898	CCDS47259.1	5q21-q23	2013-01-08			ENSG00000061455	ENSG00000061455		"""Zinc fingers, C2H2-type"""	9350	protein-coding gene	gene with protein product							Standard	NM_001136239		Approved		uc003kti.3	Q9NQX0	OTTHUMG00000150469	ENST00000407847.4:c.607G>A	chr5.hg19:g.122435363G>A	ENSP00000384725:p.Ala203Thr	96.0	0.0	.		79.0	23.0	.	NM_001136239	B5MCJ4|Q9NQW9	Missense_Mutation	SNP	ENST00000407847.4	hg19	CCDS47259.1	.	.	.	.	.	.	.	.	.	.	G	36	5.646865	0.96714	.	.	ENSG00000061455	ENST00000407847	T	0.08807	3.05	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	N	0.24115	0.695	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.02371	-1.1169	10	0.46703	T	0.11	-24.2508	19.5344	0.95244	0.0:0.0:1.0:0.0	.	203	Q9NQX0	PRDM6_HUMAN	T	203	ENSP00000384725:A203T	ENSP00000384725:A203T	A	+	1	0	PRDM6	122463262	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.820000	0.92003	2.622000	0.88805	0.563000	0.77884	GCG	.	.	.	none		0.682	PRDM6-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318226.2	XM_049619	
MEGF10	84466	hgsc.bcm.edu	37	5	126705644	126705644	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:126705644C>G	ENST00000274473.6	+	6	629	c.362C>G	c.(361-363)cCa>cGa	p.P121R	MEGF10_ENST00000508365.1_Missense_Mutation_p.P121R|MEGF10_ENST00000503335.2_Missense_Mutation_p.P121R|MEGF10_ENST00000418761.2_Missense_Mutation_p.P121R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	121	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTATTGCTCCAAACACCTGT	0.473																																					p.P121R		Atlas-SNP	.											.	MEGF10	152	.	0			c.C362G						PASS	.						194.0	160.0	172.0					5																	126705644		2203	4300	6503	SO:0001583	missense	84466	exon6			TTGCTCCAAACAC	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.362C>G	chr5.hg19:g.126705644C>G	ENSP00000274473:p.Pro121Arg	52.0	0.0	.		51.0	16.0	.	NM_032446	Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	hg19	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.445120	0.83993	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.16	5.16	0.70880	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000001	T	0.80778	0.4688	H	0.94582	3.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.84847	0.0811	10	0.45353	T	0.12	-7.4634	18.7442	0.91787	0.0:1.0:0.0:0.0	.	121;121	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	R	121	ENSP00000423354:P121R;ENSP00000423195:P121R;ENSP00000416284:P121R;ENSP00000274473:P121R	ENSP00000274473:P121R	P	+	2	0	MEGF10	126733543	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.800000	0.85949	2.422000	0.82143	0.558000	0.71614	CCA	.	.	.	none		0.473	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446	
KDM3B	51780	hgsc.bcm.edu	37	5	137760025	137760025	+	Missense_Mutation	SNP	G	G	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:137760025G>C	ENST00000314358.5	+	16	4434	c.4234G>C	c.(4234-4236)Ggt>Cgt	p.G1412R	KDM3B_ENST00000394866.1_Missense_Mutation_p.G1068R|KDM3B_ENST00000542866.1_Missense_Mutation_p.G444R	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1412					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTGGAAGCAAGGTCAGGTAAG	0.488																																					p.G1412R		Atlas-SNP	.											.	KDM3B	177	.	0			c.G4234C						PASS	.						85.0	83.0	84.0					5																	137760025		2203	4300	6503	SO:0001583	missense	51780	exon16			AAGCAAGGTCAGG	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4234G>C	chr5.hg19:g.137760025G>C	ENSP00000326563:p.Gly1412Arg	107.0	0.0	.		99.0	25.0	.	NM_016604	A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	hg19	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.894733	0.91962	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.72835	-0.69;-0.69;-0.69	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87723	0.2574	10	0.72032	D	0.01	-26.8379	19.036	0.92978	0.0:0.0:1.0:0.0	.	1068;1412	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	R	1412;1202;1068;444	ENSP00000326563:G1412R;ENSP00000378335:G1068R;ENSP00000439462:G444R	ENSP00000326563:G1412R	G	+	1	0	KDM3B	137787924	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.869000	0.99810	2.486000	0.83907	0.563000	0.77884	GGT	.	.	.	none		0.488	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604	
FAM71B	153745	hgsc.bcm.edu	37	5	156590429	156590429	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:156590429C>T	ENST00000302938.4	-	2	942	c.847G>A	c.(847-849)Gca>Aca	p.A283T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	283	Ala-rich.					nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCTGCTATTGCCACATCTGTT	0.582																																					p.A283T		Atlas-SNP	.											.	FAM71B	145	.	0			c.G847A						PASS	.						126.0	104.0	111.0					5																	156590429		2203	4300	6503	SO:0001583	missense	153745	exon2			CTATTGCCACATC		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.847G>A	chr5.hg19:g.156590429C>T	ENSP00000305596:p.Ala283Thr	55.0	0.0	.		53.0	15.0	.	NM_130899	Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	ENST00000302938.4	hg19	CCDS4335.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539642	0.27563	.	.	ENSG00000170613	ENST00000302938	T	0.04809	3.55	3.7	1.86	0.25419	.	0.829219	0.10160	N	0.708438	T	0.04770	0.0129	L	0.45137	1.4	0.09310	N	1	B	0.29909	0.261	B	0.22880	0.042	T	0.38373	-0.9664	10	0.48119	T	0.1	-2.3928	6.3492	0.21367	0.0:0.7665:0.0:0.2335	.	283	Q8TC56	FA71B_HUMAN	T	283	ENSP00000305596:A283T	ENSP00000305596:A283T	A	-	1	0	FAM71B	156523007	0.000000	0.05858	0.001000	0.08648	0.066000	0.16364	-0.131000	0.10482	0.506000	0.28125	0.467000	0.42956	GCA	.	.	.	none		0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
ECI2	10455	hgsc.bcm.edu	37	6	4131018	4131018	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:4131018G>A	ENST00000380118.3	-	3	331	c.295C>T	c.(295-297)Ctt>Ttt	p.L99F	C6orf201_ENST00000380175.4_3'UTR|ECI2_ENST00000380125.2_Missense_Mutation_p.L69F|ECI2_ENST00000413766.2_5'UTR|ECI2_ENST00000465828.1_Missense_Mutation_p.L69F|ECI2_ENST00000361538.2_Missense_Mutation_p.L69F			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	99	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						AGGCTGCCAAGGGCATTCCAT	0.458																																					p.L99F		Atlas-SNP	.											.	ECI2	59	.	0			c.C295T						PASS	.						158.0	143.0	148.0					6																	4131018		2203	4300	6503	SO:0001583	missense	10455	exon3			TGCCAAGGGCATT	AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.295C>T	chr6.hg19:g.4131018G>A	ENSP00000369461:p.Leu99Phe	104.0	0.0	.		91.0	25.0	.	NM_206836	Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	ENST00000380118.3	hg19	CCDS43420.2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131222	0.77549	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000361538;ENST00000465828;ENST00000495548	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	6.06	5.19	0.71726	FERM/acyl-CoA-binding protein, 3-helical bundle (1);Acyl-CoA-binding protein, ACBP (3);	0.404887	0.25316	N	0.031541	T	0.29126	0.0724	M	0.82433	2.59	0.80722	D	1	B	0.34061	0.436	P	0.45829	0.494	T	0.19192	-1.0313	10	0.54805	T	0.06	.	9.0981	0.36651	0.163:0.0:0.837:0.0	.	99	O75521	ECI2_HUMAN	F	99;69;69;69;146	ENSP00000369461:L99F;ENSP00000369468:L69F;ENSP00000354737:L69F;ENSP00000420309:L69F;ENSP00000417459:L146F	ENSP00000354737:L69F	L	-	1	0	ECI2	4076017	1.000000	0.71417	0.871000	0.34182	0.983000	0.72400	5.373000	0.66162	1.569000	0.49696	0.655000	0.94253	CTT	.	.	.	none		0.458	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039716.4	NM_006117	
MRS2	57380	hgsc.bcm.edu	37	6	24405466	24405466	+	Silent	SNP	T	T	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:24405466T>C	ENST00000378386.3	+	2	354	c.261T>C	c.(259-261)acT>acC	p.T87T	MRS2_ENST00000443868.2_Silent_p.T87T|MRS2_ENST00000378353.1_Silent_p.T87T|MRS2_ENST00000535061.1_Silent_p.T87T|MRS2_ENST00000483634.1_3'UTR|MRS2_ENST00000274747.7_Silent_p.T87T|MRS2_ENST00000543597.1_Intron	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	87						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						CAGTATTTACTGTGGTGAGTA	0.423																																					p.T87T		Atlas-SNP	.											.	MRS2	31	.	0			c.T261C						PASS	.						118.0	105.0	109.0					6																	24405466		2203	4300	6503	SO:0001819	synonymous_variant	57380	exon2			ATTTACTGTGGTG	AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.261T>C	chr6.hg19:g.24405466T>C		64.0	0.0	.		43.0	12.0	.	NM_020662	A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Silent	SNP	ENST00000378386.3	hg19	CCDS4552.1	.	.	.	.	.	.	.	.	.	.	T	10.76	1.442039	0.25900	.	.	ENSG00000124532	ENST00000446191	.	.	.	5.0	2.61	0.31194	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	-10.5347	4.7063	0.12851	0.1739:0.1633:0.0:0.6628	.	.	.	.	P	39	.	.	L	+	2	0	MRS2	24513445	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	0.331000	0.19733	0.484000	0.27630	0.533000	0.62120	CTG	.	.	.	none		0.423	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040002.1		
SLC25A27	9481	hgsc.bcm.edu	37	6	46626712	46626712	+	Silent	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:46626712T>A	ENST00000371347.5	+	3	564	c.312T>A	c.(310-312)ggT>ggA	p.G104G	SLC25A27_ENST00000604908.1_3'UTR|SLC25A27_ENST00000411689.2_Silent_p.G104G|SLC25A27_ENST00000452689.2_Silent_p.G18G	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	104					cellular triglyceride homeostasis (GO:0035356)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|negative regulation of mitochondrial membrane potential (GO:0010917)|neuron death (GO:0070997)|positive regulation of cell proliferation (GO:0008284)|regulation of glucose import (GO:0046324)|transport (GO:0006810)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			ATTCTGGAGGTCGAATGGTCA	0.353																																					p.G104G		Atlas-SNP	.											.	SLC25A27	22	.	0			c.T312A						PASS	.						242.0	226.0	231.0					6																	46626712		1842	4090	5932	SO:0001819	synonymous_variant	9481	exon3			TGGAGGTCGAATG	AK090871	CCDS43470.1, CCDS56431.1	6p12.3	2013-05-22			ENSG00000153291	ENSG00000153291		"""Solute carriers"""	21065	protein-coding gene	gene with protein product		613725				10025957, 10772343	Standard	NM_004277		Approved	UCP4, FLJ33552	uc003oyh.3	O95847	OTTHUMG00000014786	ENST00000371347.5:c.312T>A	chr6.hg19:g.46626712T>A		140.0	0.0	.		128.0	31.0	.	NM_001204051	F5GWR4|Q5VTS9|Q8N518	Silent	SNP	ENST00000371347.5	hg19	CCDS43470.1																																																																																			.	.	.	none		0.353	SLC25A27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040791.1	NM_004277	
CASP8AP2	9994	hgsc.bcm.edu	37	6	90571848	90571848	+	RNA	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:90571848G>A	ENST00000551025.1	+	0	1857									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ATAATAGATTGTCTGAGTTTC	0.269																																					p.L140L	Colon(187;1656 2025 17045 31481 39901)	Atlas-SNP	.											.	CASP8AP2	108	.	0			c.G420A						PASS	.						25.0	22.0	23.0					6																	90571848		1786	4055	5841			9994	exon7			TAGATTGTCTGAG	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		chr6.hg19:g.90571848G>A		102.0	0.0	.		86.0	22.0	.	NM_001137667		Silent	SNP	ENST00000551025.1	hg19																																																																																				.	.	.	none		0.269	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
L3MBTL3	84456	hgsc.bcm.edu	37	6	130415502	130415502	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:130415502G>A	ENST00000529410.1	+	20	2205	c.1726G>A	c.(1726-1728)Ggc>Agc	p.G576S	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.G551S|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.G576S|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.G551S|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.G576S|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.G551S			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	576					chromatin modification (GO:0016568)|erythrocyte maturation (GO:0043249)|granulocyte differentiation (GO:0030851)|macrophage differentiation (GO:0030225)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GAGACATCTGGGCCCTCACAG	0.413																																					p.G576S		Atlas-SNP	.											.	L3MBTL3	99	.	0			c.G1726A						PASS	.						73.0	67.0	69.0					6																	130415502		2203	4300	6503	SO:0001583	missense	84456	exon18			CATCTGGGCCCTC	AB058701	CCDS34537.1, CCDS34538.1	6q23	2013-01-10			ENSG00000198945	ENSG00000198945		"""Sterile alpha motif (SAM) domain containing"""	23035	protein-coding gene	gene with protein product							Standard	NM_032438		Approved	KIAA1798	uc003qbt.3	Q96JM7	OTTHUMG00000015554	ENST00000529410.1:c.1726G>A	chr6.hg19:g.130415502G>A	ENSP00000431962:p.Gly576Ser	91.0	0.0	.		95.0	23.0	.	NM_032438	Q4VXE1|Q5VUM9|Q6P9B5	Missense_Mutation	SNP	ENST00000529410.1	hg19	CCDS34537.1	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143485	0.57044	.	.	ENSG00000198945	ENST00000529410;ENST00000533560;ENST00000361794;ENST00000368139;ENST00000526019;ENST00000368136	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	6.05	5.19	0.71726	.	0.268826	0.43110	N	0.000601	T	0.11665	0.0284	N	0.20328	0.56	0.45704	D	0.998618	B;B	0.10296	0.003;0.0	B;B	0.12156	0.007;0.002	T	0.09707	-1.0662	10	0.09338	T	0.73	.	12.3272	0.55018	0.0785:0.0:0.9215:0.0	.	551;576	Q96JM7-2;Q96JM7	.;LMBL3_HUMAN	S	576;551;576;551;551;576	ENSP00000431962:G576S;ENSP00000437185:G551S;ENSP00000354526:G576S;ENSP00000357121:G551S;ENSP00000436706:G551S;ENSP00000357118:G576S	ENSP00000354526:G576S	G	+	1	0	L3MBTL3	130457195	0.998000	0.40836	1.000000	0.80357	0.994000	0.84299	2.838000	0.48199	1.565000	0.49641	0.650000	0.86243	GGC	.	.	.	none		0.413	L3MBTL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042195.2	XM_027074	
ZMIZ2	83637	hgsc.bcm.edu	37	7	44801088	44801088	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:44801088G>A	ENST00000309315.4	+	10	1404	c.1281G>A	c.(1279-1281)gtG>gtA	p.V427V	ZMIZ2_ENST00000441627.1_Silent_p.V427V|ZMIZ2_ENST00000265346.7_Silent_p.V401V|ZMIZ2_ENST00000433667.1_Silent_p.V395V|ZMIZ2_ENST00000413916.1_Silent_p.V369V	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	427					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCCCTGTGCGCGATGGGG	0.612																																					p.V427V	NSCLC(20;604 852 1948 16908 50522)	Atlas-SNP	.											.	ZMIZ2	82	.	0			c.G1281A						PASS	.						55.0	66.0	62.0					7																	44801088		2203	4300	6503	SO:0001819	synonymous_variant	83637	exon10			CCCTGTGCGCGAT	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1281G>A	chr7.hg19:g.44801088G>A		58.0	0.0	.		37.0	10.0	.	NM_031449	A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Silent	SNP	ENST00000309315.4	hg19	CCDS43576.1																																																																																			.	.	.	none		0.612	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449	
PKD1L1	168507	hgsc.bcm.edu	37	7	47832364	47832364	+	Nonsense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:47832364A>T	ENST00000289672.2	-	56	8437	c.8387T>A	c.(8386-8388)tTa>tAa	p.L2796*	C7orf69_ENST00000418326.2_5'Flank|C7orf69_ENST00000258776.4_5'Flank	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2796					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AAGTTCGTCTAACAGATTTGC	0.398																																					p.L2796X		Atlas-SNP	.											.	PKD1L1	328	.	0			c.T8387A						PASS	.						113.0	105.0	108.0					7																	47832364		2203	4300	6503	SO:0001587	stop_gained	168507	exon56			TCGTCTAACAGAT	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8387T>A	chr7.hg19:g.47832364A>T	ENSP00000289672:p.Leu2796*	83.0	0.0	.		92.0	26.0	.	NM_138295	Q6UWK1	Nonsense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	49	15.550097	0.99837	.	.	ENSG00000158683	ENST00000289672	.	.	.	4.95	4.95	0.65309	.	1.192360	0.06551	N	0.745053	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9412	10.9277	0.47199	1.0:0.0:0.0:0.0	.	.	.	.	X	2796	.	ENSP00000289672:L2796X	L	-	2	0	PKD1L1	47798889	0.009000	0.17119	0.021000	0.16686	0.942000	0.58702	2.146000	0.42216	2.086000	0.62901	0.533000	0.62120	TTA	.	.	.	none		0.398	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
CADPS2	93664	hgsc.bcm.edu	37	7	121960313	121960313	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:121960313C>T	ENST00000449022.2	-	30	3816	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	CADPS2_ENST00000313070.7_Missense_Mutation_p.R1225H|CADPS2_ENST00000412584.2_Missense_Mutation_p.R1225H|CADPS2_ENST00000334010.7_Missense_Mutation_p.R1264H	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1266					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTGTTAAACGTCTGTGCAC	0.433																																					p.R1270H		Atlas-SNP	.											.	CADPS2	116	.	0			c.G3809A						PASS	.						188.0	178.0	181.0					7																	121960313		1913	4121	6034	SO:0001583	missense	93664	exon30			GTTAAACGTCTGT		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.3797G>A	chr7.hg19:g.121960313C>T	ENSP00000398481:p.Arg1266His	76.0	0.0	.		93.0	20.0	.	NM_001167940	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	hg19	CCDS55158.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.308018|5.308018	0.95629|0.95629	.|.	.|.	ENSG00000081803|ENSG00000081803	ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699	T;T;T;T|.	0.35236|.	1.32;1.32;1.32;1.32|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83193|0.83193	0.5201|0.5201	M|M	0.84585|0.84585	2.705|2.705	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.999|.	D;D;D;D|.	0.97110|.	0.992;1.0;0.991;0.994|.	D|D	0.84139|0.84139	0.0416|0.0416	10|5	0.87932|.	D|.	0|.	-10.5465|-10.5465	19.6777|19.6777	0.95943|0.95943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1270;1225;1266;1220|.	B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.;.;CAPS2_HUMAN;.|.	H|I	439;1225;1264;1271;1192;1225;1266|460	ENSP00000325581:R1225H;ENSP00000333940:R1264H;ENSP00000400401:R1225H;ENSP00000398481:R1266H|.	ENSP00000325581:R1225H|.	R|V	-|-	2|1	0|0	CADPS2|CADPS2	121747549|121747549	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.669000|2.669000	0.90835|0.90835	0.650000|0.650000	0.86243|0.86243	CGT|GTT	.	.	.	none		0.433	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
TRPV5	56302	hgsc.bcm.edu	37	7	142609899	142609899	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:142609899G>T	ENST00000265310.1	-	13	1885	c.1537C>A	c.(1537-1539)Cag>Aag	p.Q513K		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	513					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCTCTGTCTGGAAAATGATA	0.463																																					p.Q513K		Atlas-SNP	.											.	TRPV5	164	.	0			c.C1537A						PASS	.						114.0	107.0	109.0					7																	142609899		2203	4300	6503	SO:0001583	missense	56302	exon13			CTGTCTGGAAAAT	AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1537C>A	chr7.hg19:g.142609899G>T	ENSP00000265310:p.Gln513Lys	113.0	0.0	.		96.0	25.0	.	NM_019841	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Missense_Mutation	SNP	ENST00000265310.1	hg19	CCDS5875.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165969	0.78339	.	.	ENSG00000127412	ENST00000265310;ENST00000439304	D;D	0.85411	-1.98;-1.98	5.52	5.52	0.82312	Ion transport (1);	0.108012	0.64402	D	0.000006	D	0.92319	0.7563	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.89121	0.3503	10	0.09843	T	0.71	-3.8699	18.8051	0.92034	0.0:0.0:1.0:0.0	.	513	Q9NQA5	TRPV5_HUMAN	K	513;458	ENSP00000265310:Q513K;ENSP00000406361:Q458K	ENSP00000265310:Q513K	Q	-	1	0	TRPV5	142320021	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.486000	0.73629	2.751000	0.94390	0.655000	0.94253	CAG	.	.	.	none		0.463	TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
SLC7A2	6542	hgsc.bcm.edu	37	8	17419548	17419548	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr8:17419548C>A	ENST00000494857.1	+	11	1818	c.1600C>A	c.(1600-1602)Ctt>Att	p.L534I	SLC7A2_ENST00000398090.3_Missense_Mutation_p.L573I|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L534I|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L574I|SLC7A2_ENST00000470360.1_Missense_Mutation_p.L573I	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	534					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CGCGCTGTTTCTTGTTCTCTT	0.527																																					p.L574I		Atlas-SNP	.											.	SLC7A2	157	.	0			c.C1720A						PASS	.						130.0	112.0	118.0					8																	17419548		2203	4300	6503	SO:0001583	missense	6542	exon10			CTGTTTCTTGTTC	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1600C>A	chr8.hg19:g.17419548C>A	ENSP00000419140:p.Leu534Ile	39.0	0.0	.		40.0	15.0	.	NM_001164771	B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	hg19	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.532320	0.27387	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.89617	-2.37;-2.37;-2.54;-2.4;-2.54	4.83	2.88	0.33553	.	0.195656	0.45606	D	0.000357	T	0.80747	0.4682	L	0.33485	1.01	0.09310	N	0.999998	B;B;B	0.19331	0.035;0.0;0.004	B;B;B	0.29663	0.105;0.012;0.003	T	0.68907	-0.5285	10	0.49607	T	0.09	.	3.2225	0.06720	0.3854:0.3832:0.1468:0.0846	.	574;573;534	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	I	534;534;573;574;573	ENSP00000419140:L534I;ENSP00000430464:L534I;ENSP00000419873:L573I;ENSP00000004531:L574I;ENSP00000381164:L573I	ENSP00000004531:L574I	L	+	1	0	SLC7A2	17463840	0.301000	0.24444	0.021000	0.16686	0.010000	0.07245	0.849000	0.27723	1.381000	0.46364	0.563000	0.77884	CTT	.	.	.	none		0.527	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046	
ANXA13	312	hgsc.bcm.edu	37	8	124705533	124705533	+	Silent	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr8:124705533C>T	ENST00000419625.1	-	8	618	c.546G>A	c.(544-546)ggG>ggA	p.G182G	ANXA13_ENST00000262219.6_Silent_p.G223G	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	182					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGCGGCCTTCCCCTGCCTCAA	0.458																																					p.G223G		Atlas-SNP	.											.	ANXA13	38	.	0			c.G669A						PASS	.						118.0	120.0	120.0					8																	124705533		2203	4300	6503	SO:0001819	synonymous_variant	312	exon9			GCCTTCCCCTGCC	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.546G>A	chr8.hg19:g.124705533C>T		109.0	0.0	.		123.0	36.0	.	NM_001003954	Q9BQR5	Silent	SNP	ENST00000419625.1	hg19	CCDS47917.1																																																																																			.	.	.	none		0.458	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306	
IZUMO3	100129669	hgsc.bcm.edu	37	9	24544202	24544202	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:24544202C>T	ENST00000543880.2	-	5	718	c.487G>A	c.(487-489)Gga>Aga	p.G163R	RP11-20A20.2_ENST00000602851.1_lincRNA|IZUMO3_ENST00000604921.1_Missense_Mutation_p.G157R			Q5VZ72	IZUM3_HUMAN	IZUMO family member 3	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)										TTGTTACCTCCACAATATTCT	0.408																																					p.G157R		Atlas-SNP	.											.	.	.	.	0			c.G469A						PASS	.																																			SO:0001583	missense	100129669	exon4			TACCTCCACAATA		CCDS65020.1	9p21.3	2014-02-17	2010-07-29	2010-07-29	ENSG00000205442	ENSG00000205442		"""-"""	31421	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 134"""	C9orf134		19658160, 22957301	Standard	NM_001271706		Approved	bA20A20.1	uc031tdg.1	Q5VZ72	OTTHUMG00000019704	ENST00000543880.2:c.487G>A	chr9.hg19:g.24544202C>T	ENSP00000438895:p.Gly163Arg	101.0	0.0	.		77.0	21.0	.	NM_001271706		Missense_Mutation	SNP	ENST00000543880.2	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.43|15.43	2.830931|2.830931	0.50845|0.50845	.|.	.|.	ENSG00000205442|ENSG00000205442	ENST00000543880;ENST00000418122|ENST00000412335	T;T|.	0.22945|.	1.93;1.93|.	5.44|5.44	3.58|3.58	0.41010|0.41010	.|.	0.768486|.	0.11492|.	N|.	0.558661|.	T|.	0.43255|.	0.1239|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.52185|.	-0.8609|.	6|.	0.48119|.	T|.	0.1|.	.|.	7.1774|7.1774	0.25753|0.25753	0.0:0.7299:0.1789:0.0911|0.0:0.7299:0.1789:0.0911	.|.	.|.	.|.	.|.	R|X	163;76|95	ENSP00000438895:G163R;ENSP00000391107:G76R|.	ENSP00000391107:G76R|.	G|W	-|-	1|2	0|0	IZUMO3|IZUMO3	24534202|24534202	0.996000|0.996000	0.38824|0.38824	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	0.390000|0.390000	0.20768|0.20768	0.836000|0.836000	0.34901|0.34901	0.650000|0.650000	0.86243|0.86243	GGA|TGG	.	.	.	none		0.408	IZUMO3-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000467652.1	NM_001271706	
SMC5	23137	hgsc.bcm.edu	37	9	72961521	72961521	+	Splice_Site	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:72961521C>A	ENST00000361138.5	+	19	2582	c.2524C>A	c.(2524-2526)Caa>Aaa	p.Q842K	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	842					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACCAATTCAGCAAGTACCCAC	0.433																																					p.Q842K		Atlas-SNP	.											.	SMC5	96	.	0			c.C2524A						PASS	.						265.0	238.0	247.0					9																	72961521		2203	4300	6503	SO:0001630	splice_region_variant	23137	exon19			ATTCAGCAAGTAC	AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.2524-1C>A	chr9.hg19:g.72961521C>A		144.0	0.0	.		138.0	38.0	.	NM_015110	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Missense_Mutation	SNP	ENST00000361138.5	hg19	CCDS6632.1	.	.	.	.	.	.	.	.	.	.	C	3.903	-0.021568	0.07634	.	.	ENSG00000198887	ENST00000361138	T	0.16324	2.35	4.67	4.67	0.58626	RecF/RecN/SMC (1);	0.831596	0.11061	N	0.603970	T	0.18800	0.0451	N	0.08118	0	0.28736	N	0.902223	P	0.44776	0.843	D	0.64506	0.926	T	0.01715	-1.1289	10	0.02654	T	1	-23.2503	13.3897	0.60816	0.0:1.0:0.0:0.0	.	842	Q8IY18	SMC5_HUMAN	K	842	ENSP00000354957:Q842K	ENSP00000354957:Q842K	Q	+	1	0	SMC5	72151341	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.018000	0.49625	2.882000	0.98803	0.655000	0.94253	CAA	.	.	.	none		0.433	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052603.1	NM_015110	Missense_Mutation
C9orf84	158401	hgsc.bcm.edu	37	9	114500784	114500784	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:114500784G>A	ENST00000318737.4	-	10	1129	c.1001C>T	c.(1000-1002)cCc>cTc	p.P334L	C9orf84_ENST00000394779.3_Missense_Mutation_p.P295L|C9orf84_ENST00000394777.4_Missense_Mutation_p.P295L|C9orf84_ENST00000374283.5_Missense_Mutation_p.P398L|C9orf84_ENST00000374287.3_Missense_Mutation_p.P334L	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	334										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGGCTGTGGGGCTCTTGAAT	0.333																																					p.P334L		Atlas-SNP	.											.	C9orf84	207	.	0			c.C1001T						PASS	.						50.0	52.0	51.0					9																	114500784		2200	4298	6498	SO:0001583	missense	158401	exon10			CTGTGGGGCTCTT	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1001C>T	chr9.hg19:g.114500784G>A	ENSP00000322108:p.Pro334Leu	52.0	0.0	.		56.0	12.0	.	NM_173521	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	ENST00000318737.4	hg19	CCDS6781.3	.	.	.	.	.	.	.	.	.	.	G	5.618	0.298823	0.10622	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000374287;ENST00000318737;ENST00000374283	T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74	4.88	1.98	0.26296	.	0.650771	0.14383	N	0.322984	T	0.32852	0.0843	L	0.32530	0.975	0.26719	N	0.970828	B;B;B;B	0.19073	0.033;0.033;0.021;0.01	B;B;B;B	0.19946	0.027;0.027;0.021;0.009	T	0.23297	-1.0192	10	0.48119	T	0.1	1.5768	5.0158	0.14335	0.1887:0.1728:0.6386:0.0	.	295;398;334;295	A6PVK7;Q5VXU9-2;Q5VXU9;A2A2V3	.;.;CI084_HUMAN;.	L	295;295;334;334;398	ENSP00000378259:P295L;ENSP00000378257:P295L;ENSP00000363405:P334L;ENSP00000322108:P334L;ENSP00000363401:P398L	ENSP00000322108:P334L	P	-	2	0	C9orf84	113540605	0.177000	0.23109	0.334000	0.25495	0.236000	0.25371	1.009000	0.29886	0.335000	0.23614	0.460000	0.39030	CCC	.	.	.	none		0.333	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053656.2	NM_173521	
HSDL2	84263	hgsc.bcm.edu	37	9	115179215	115179215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:115179215C>T	ENST00000398805.3	+	5	717	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	HSDL2_ENST00000488101.1_3'UTR|HSDL2_ENST00000262542.7_Nonsense_Mutation_p.Q44*|HSDL2_ENST00000398803.1_Intron|HSDL2_ENST00000539114.1_Intron	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	164						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						TTGGTTCAAACAGCACTGTGG	0.388																																					p.Q164X		Atlas-SNP	.											.	HSDL2	24	.	0			c.C490T						PASS	.						85.0	80.0	82.0					9																	115179215		1872	4106	5978	SO:0001587	stop_gained	84263	exon5			TTCAAACAGCACT	AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.490C>T	chr9.hg19:g.115179215C>T	ENSP00000381785:p.Gln164*	70.0	0.0	.		57.0	19.0	.	NM_032303	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Nonsense_Mutation	SNP	ENST00000398805.3	hg19	CCDS43864.1	.	.	.	.	.	.	.	.	.	.	C	38	6.743467	0.97805	.	.	ENSG00000119471	ENST00000398805;ENST00000262542	.	.	.	6.06	4.23	0.50019	.	0.149056	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	7.0545	0.25091	0.1958:0.6377:0.0983:0.0682	.	.	.	.	X	164;44	.	ENSP00000262542:Q44X	Q	+	1	0	HSDL2	114219036	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	3.972000	0.56838	0.459000	0.27016	-0.795000	0.03280	CAG	.	.	.	none		0.388	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053681.1	NM_032303	
DENND1A	57706	hgsc.bcm.edu	37	9	126144822	126144822	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:126144822C>G	ENST00000373624.2	-	22	2120	c.1919G>C	c.(1918-1920)aGc>aCc	p.S640T	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Missense_Mutation_p.S651T|DENND1A_ENST00000542603.1_Missense_Mutation_p.S425T	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	640					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGGCCCAGGCTCCAGAGCTT	0.657																																					p.S640T		Atlas-SNP	.											.	DENND1A	112	.	0			c.G1919C						PASS	.						58.0	62.0	60.0					9																	126144822		2203	4300	6503	SO:0001583	missense	57706	exon22			CCCAGGCTCCAGA	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1919G>C	chr9.hg19:g.126144822C>G	ENSP00000362727:p.Ser640Thr	85.0	0.0	.		53.0	13.0	.	NM_020946	A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Missense_Mutation	SNP	ENST00000373624.2	hg19	CCDS35133.1	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621236	0.66787	.	.	ENSG00000119522	ENST00000373624;ENST00000542603;ENST00000394219	T;T;T	0.34472	2.81;1.36;2.66	5.06	4.1	0.47936	.	0.130939	0.64402	D	0.000002	T	0.43986	0.1272	M	0.61703	1.905	0.80722	D	1	D;D;P;P	0.58268	0.962;0.982;0.835;0.651	P;P;B;B	0.52598	0.677;0.703;0.322;0.165	T	0.28681	-1.0036	10	0.37606	T	0.19	-18.4894	10.3178	0.43747	0.0:0.7878:0.1361:0.076	.	651;641;640;503	Q8TEH3-6;Q8TEH3-7;Q8TEH3;Q9HCG4	.;.;DEN1A_HUMAN;.	T	640;425;651	ENSP00000362727:S640T;ENSP00000437457:S425T;ENSP00000377766:S651T	ENSP00000362727:S640T	S	-	2	0	DENND1A	125184643	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.426000	0.52778	2.352000	0.79861	0.563000	0.77884	AGC	.	.	.	none		0.657	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
NOTCH1	4851	hgsc.bcm.edu	37	9	139409835	139409835	+	Missense_Mutation	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:139409835T>A	ENST00000277541.6	-	12	1996	c.1921A>T	c.(1921-1923)Aac>Tac	p.N641Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	641	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|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)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCATCCAGGTTGATCTCGCAG	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																											p.N641Y		Atlas-SNP	.		Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	.	NOTCH1	1980	.	0			c.A1921T						PASS	.						73.0	81.0	78.0					9																	139409835		2131	4246	6377	SO:0001583	missense	4851	exon12			CCAGGTTGATCTC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1921A>T	chr9.hg19:g.139409835T>A	ENSP00000277541:p.Asn641Tyr	81.0	0.0	.		82.0	18.0	.	NM_017617	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	hg19	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204226	0.79127	.	.	ENSG00000148400	ENST00000277541	D	0.87029	-2.2	4.92	4.92	0.64577	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.92437	0.7599	M	0.79614	2.46	0.80722	D	1	D	0.63880	0.993	D	0.64595	0.927	D	0.93392	0.6752	10	0.87932	D	0	.	13.7467	0.62879	0.0:0.0:0.0:1.0	.	641	P46531	NOTC1_HUMAN	Y	641	ENSP00000277541:N641Y	ENSP00000277541:N641Y	N	-	1	0	NOTCH1	138529656	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	7.846000	0.86887	1.831000	0.53308	0.460000	0.39030	AAC	.	.	.	none		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	
ITGA8	8516	hgsc.bcm.edu	37	10	15688924	15688924	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:15688924G>A	ENST00000378076.3	-	12	1481	c.1128C>T	c.(1126-1128)atC>atT	p.I376I		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	376					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGCCAGTGAGGATCTGGGGGT	0.478																																					p.I376I		Atlas-SNP	.											ITGA8,colon,carcinoma,0,1	ITGA8	230	.	0			c.C1128T						PASS	.						121.0	108.0	112.0					10																	15688924		2203	4300	6503	SO:0001819	synonymous_variant	8516	exon12			AGTGAGGATCTGG	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1128C>T	chr10.hg19:g.15688924G>A		123.0	0.0	.		126.0	29.0	.	NM_003638	B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	hg19	CCDS31155.1																																																																																			.	.	.	none		0.478	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638	
FZD8	8325	hgsc.bcm.edu	37	10	35929628	35929628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:35929628C>A	ENST00000374694.1	-	1	734	c.730G>T	c.(730-732)Gag>Tag	p.E244*	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	244					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGGTGGCGCTCGCTGGACACG	0.731																																					p.E244X		Atlas-SNP	.											.	FZD8	41	.	0			c.G730T						PASS	.						29.0	31.0	30.0					10																	35929628		2201	4299	6500	SO:0001587	stop_gained	8325	exon1			GGCGCTCGCTGGA	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.730G>T	chr10.hg19:g.35929628C>A	ENSP00000363826:p.Glu244*	45.0	0.0	.		39.0	12.0	.	NM_031866		Nonsense_Mutation	SNP	ENST00000374694.1	hg19	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952465	0.92660	.	.	ENSG00000177283	ENST00000374694	.	.	.	2.46	2.46	0.29980	.	0.344379	0.25338	U	0.031393	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	11.9654	0.53031	0.0:1.0:0.0:0.0	.	.	.	.	X	244	.	ENSP00000363826:E244X	E	-	1	0	FZD8	35969634	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.333000	0.72939	1.356000	0.45884	0.289000	0.19496	GAG	.	.	.	none		0.731	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866	
KAT6B	23522	hgsc.bcm.edu	37	10	76789888	76789888	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:76789888G>A	ENST00000287239.4	+	18	5795	c.5306G>A	c.(5305-5307)tGc>tAc	p.C1769Y	KAT6B_ENST00000372711.1_Missense_Mutation_p.C1586Y|KAT6B_ENST00000372725.1_Missense_Mutation_p.C1477Y|KAT6B_ENST00000372714.1_Missense_Mutation_p.C1477Y|KAT6B_ENST00000372724.1_Missense_Mutation_p.C1477Y	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1769	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTGGCTCAGTGCAGCATGGCT	0.592																																					p.C1769Y		Atlas-SNP	.											.	.	.	.	0			c.G5306A						PASS	.						43.0	40.0	41.0					10																	76789888		2203	4300	6503	SO:0001583	missense	23522	exon18			CTCAGTGCAGCAT	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.5306G>A	chr10.hg19:g.76789888G>A	ENSP00000287239:p.Cys1769Tyr	86.0	0.0	.		69.0	13.0	.	NM_012330	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	hg19	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	G	14.62	2.590079	0.46214	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.80033	-1.29;-1.29;-1.33;-1.29;-1.29	5.54	5.54	0.83059	.	0.000000	0.53938	D	0.000041	D	0.85296	0.5664	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.995;0.999;0.997	D;D;D	0.79108	0.992;0.971;0.96	D	0.86746	0.1957	10	0.72032	D	0.01	-7.6819	19.4767	0.94992	0.0:0.0:1.0:0.0	.	1586;1477;1769	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	Y	1477;1477;1769;1477;1586	ENSP00000361810:C1477Y;ENSP00000361809:C1477Y;ENSP00000287239:C1769Y;ENSP00000361799:C1477Y;ENSP00000361796:C1586Y	ENSP00000287239:C1769Y	C	+	2	0	KAT6B	76459894	1.000000	0.71417	0.991000	0.47740	0.981000	0.71138	9.476000	0.97823	2.592000	0.87571	0.563000	0.77884	TGC	.	.	.	none		0.592	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
CRTAC1	55118	hgsc.bcm.edu	37	10	99656744	99656744	+	Missense_Mutation	SNP	T	T	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr10:99656744T>G	ENST00000370597.3	-	9	1493	c.1138A>C	c.(1138-1140)Atc>Ctc	p.I380L	CRTAC1_ENST00000370591.2_Missense_Mutation_p.I380L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.I380L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	380						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TCTCTACGGATGACGCTGCAG	0.667																																					p.I380L		Atlas-SNP	.											.	CRTAC1	86	.	0			c.A1138C						PASS	.						32.0	25.0	28.0					10																	99656744		2188	4268	6456	SO:0001583	missense	55118	exon9			TACGGATGACGCT	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1138A>C	chr10.hg19:g.99656744T>G	ENSP00000359629:p.Ile380Leu	54.0	0.0	.		33.0	10.0	.	NM_001206528	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	hg19	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	T	7.593	0.671122	0.14776	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21031	2.03;2.03;2.03;2.03;2.03	5.04	5.04	0.67666	.	0.176405	0.50627	D	0.000113	T	0.11239	0.0274	N	0.22421	0.69	0.29887	N	0.825497	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.0;0.001	T	0.25187	-1.0139	10	0.02654	T	1	-26.2583	9.3467	0.38113	0.0:0.08:0.0:0.92	.	380;380;276	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	L	276;380;380;372;380	ENSP00000408445:I276L;ENSP00000359629:I380L;ENSP00000298819:I380L;ENSP00000310810:I372L;ENSP00000359623:I380L	ENSP00000298819:I380L	I	-	1	0	CRTAC1	99646734	0.998000	0.40836	1.000000	0.80357	0.807000	0.45602	0.559000	0.23485	1.887000	0.54652	0.459000	0.35465	ATC	.	.	.	none		0.667	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058	
OR51I2	390064	hgsc.bcm.edu	37	11	5475536	5475536	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:5475536A>G	ENST00000341449.2	+	1	899	c.818A>G	c.(817-819)cAt>cGt	p.H273R	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	273					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)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTACATACATGTCCTCATG	0.478																																					p.H273R		Atlas-SNP	.											.	OR51I2	76	.	0			c.A818G						PASS	.						214.0	184.0	194.0					11																	5475536		2201	4297	6498	SO:0001583	missense	390064	exon1			ACATACATGTCCT	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.818A>G	chr11.hg19:g.5475536A>G	ENSP00000341987:p.His273Arg	77.0	0.0	.		47.0	14.0	.	NM_001004754	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	hg19	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	A	9.364	1.068810	0.20147	.	.	ENSG00000187918	ENST00000341449	T	0.00058	8.79	5.45	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.00440	0.0014	M	0.80847	2.515	0.20703	N	0.999865	D	0.69078	0.997	D	0.80764	0.994	T	0.37888	-0.9686	10	0.59425	D	0.04	.	10.9472	0.47308	0.8598:0.0:0.0:0.1401	.	273	Q9H344	O51I2_HUMAN	R	273	ENSP00000341987:H273R	ENSP00000341987:H273R	H	+	2	0	OR51I2	5432112	0.076000	0.21285	0.967000	0.41034	0.011000	0.07611	3.394000	0.52551	1.065000	0.40693	0.460000	0.39030	CAT	.	.	.	none		0.478	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754	
DNHD1	144132	hgsc.bcm.edu	37	11	6588531	6588531	+	Missense_Mutation	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:6588531T>A	ENST00000527990.2	+	34	11792	c.11792T>A	c.(11791-11793)gTa>gAa	p.V3931E	DNHD1_ENST00000254579.6_Missense_Mutation_p.V3931E			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3931					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTACCCAAGTACCCTTGGTG	0.597																																					p.V3931E		Atlas-SNP	.											.	DNHD1	198	.	0			c.T11792A						PASS	.						64.0	71.0	69.0					11																	6588531		2117	4226	6343	SO:0001583	missense	144132	exon36			CCCAAGTACCCTT	AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11792T>A	chr11.hg19:g.6588531T>A	ENSP00000436180:p.Val3931Glu	78.0	0.0	.		76.0	21.0	.	NM_144666	Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	ENST00000527990.2	hg19	CCDS44532.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.561834	0.00903	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.24538	1.85;1.85	4.54	2.19	0.27852	.	1.287750	0.05610	N	0.578019	T	0.16041	0.0386	N	0.19112	0.55	0.09310	N	1	B;B;B	0.30482	0.281;0.244;0.281	B;B;B	0.29440	0.102;0.073;0.102	T	0.28713	-1.0035	10	0.46703	T	0.11	-0.0209	3.0352	0.06119	0.0:0.2537:0.23:0.5163	.	3019;199;3931	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	E	3931;3931;199;199	ENSP00000254579:V3931E;ENSP00000436180:V3931E	ENSP00000254579:V3931E	V	+	2	0	DNHD1	6545107	0.001000	0.12720	0.040000	0.18447	0.153000	0.21895	0.341000	0.19909	0.795000	0.33922	0.459000	0.35465	GTA	.	.	.	none		0.597	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384673.2	NM_144666	
CKAP5	9793	hgsc.bcm.edu	37	11	46832664	46832664	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:46832664A>G	ENST00000529230.1	-	5	569	c.523T>C	c.(523-525)Tct>Cct	p.S175P	CKAP5_ENST00000415402.1_Missense_Mutation_p.S175P|CKAP5_ENST00000354558.3_Missense_Mutation_p.S175P|CKAP5_ENST00000312055.5_Missense_Mutation_p.S175P			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	175					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTCTCTCGAGACTCAAAGAGT	0.388																																					p.S175P	Ovarian(4;85 273 2202 4844 13323)	Atlas-SNP	.											.	CKAP5	134	.	0			c.T523C						PASS	.						91.0	85.0	87.0					11																	46832664		2201	4299	6500	SO:0001583	missense	9793	exon5			CTCGAGACTCAAA		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.523T>C	chr11.hg19:g.46832664A>G	ENSP00000432768:p.Ser175Pro	128.0	0.0	.		120.0	39.0	.	NM_001008938	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	hg19	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	A	28.2	4.896892	0.91962	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000378629;ENST00000354558	T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39	5.61	5.61	0.85477	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72653	0.3487	L	0.28115	0.83	0.80722	D	1	D;D;D	0.71674	0.997;0.997;0.998	D;D;P	0.78314	0.991;0.991;0.899	T	0.75522	-0.3288	10	0.56958	D	0.05	-2.057	15.7997	0.78443	1.0:0.0:0.0:0.0	.	175;175;175	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	P	175	ENSP00000432768:S175P;ENSP00000395302:S175P;ENSP00000310227:S175P;ENSP00000346566:S175P	ENSP00000310227:S175P	S	-	1	0	CKAP5	46789240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.213000	0.95133	2.140000	0.66376	0.460000	0.39030	TCT	.	.	.	none		0.388	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
PPP1CA	5499	hgsc.bcm.edu	37	11	67168588	67168588	+	Silent	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:67168588A>G	ENST00000376745.4	-	2	286	c.138T>C	c.(136-138)ttT>ttC	p.F46F	PPP1CA_ENST00000532446.1_5'UTR|PPP1CA_ENST00000358239.4_Intron|PPP1CA_ENST00000312989.7_Silent_p.F57F|TBC1D10C_ENST00000526387.1_5'Flank|TBC1D10C_ENST00000312390.5_5'Flank	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	46					branching morphogenesis of an epithelial tube (GO:0048754)|cell cycle (GO:0007049)|cell division (GO:0051301)|circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|glycogen metabolic process (GO:0005977)|lung development (GO:0030324)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein dephosphorylation (GO:0006470)|regulation of circadian rhythm (GO:0042752)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)|triglyceride catabolic process (GO:0019433)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|MLL5-L complex (GO:0070688)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein phosphatase type 1 complex (GO:0000164)|PTW/PP1 phosphatase complex (GO:0072357)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)|ribonucleoprotein complex binding (GO:0043021)			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GCTGGCTCAGAAAAATCTCCC	0.617																																					p.F57F		Atlas-SNP	.											.	PPP1CA	83	.	0			c.T171C						PASS	.						55.0	63.0	60.0					11																	67168588		2200	4295	6495	SO:0001819	synonymous_variant	5499	exon2			GCTCAGAAAAATC		CCDS8160.1, CCDS8161.1, CCDS31618.1	11q13	2013-01-18	2010-03-05			ENSG00000172531	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9281	protein-coding gene	gene with protein product		176875	"""protein phosphatase 1, catalytic subunit, alpha isoform"""	PPP1A			Standard	NM_002708		Approved	PP1A, PP-1A, PP1alpha	uc001oku.1	P62136		ENST00000376745.4:c.138T>C	chr11.hg19:g.67168588A>G		102.0	0.0	.		100.0	26.0	.	NM_001008709	A6NNR3|B2R908|P08129|P20653|P22802|Q07161	Silent	SNP	ENST00000376745.4	hg19	CCDS8160.1																																																																																			.	.	.	none		0.617	PPP1CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395487.1	NM_002708	
ARHGEF17	9828	hgsc.bcm.edu	37	11	73022203	73022203	+	Silent	SNP	T	T	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr11:73022203T>A	ENST00000263674.3	+	1	2870	c.2520T>A	c.(2518-2520)ccT>ccA	p.P840P	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	840					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|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)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGGCTGGGCCTGGATTCGAGG	0.657																																					p.P840P		Atlas-SNP	.											.	ARHGEF17	117	.	0			c.T2520A						PASS	.						41.0	49.0	46.0					11																	73022203		2200	4293	6493	SO:0001819	synonymous_variant	9828	exon1			TGGGCCTGGATTC	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2520T>A	chr11.hg19:g.73022203T>A		146.0	0.0	.		121.0	47.0	.	NM_014786	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Silent	SNP	ENST00000263674.3	hg19	CCDS8221.1																																																																																			.	.	.	none		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
TXNRD1	7296	hgsc.bcm.edu	37	12	104681125	104681125	+	Splice_Site	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr12:104681125G>T	ENST00000526691.1	+	1	466		c.e1+1		TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000354940.6_Splice_Site|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_5'Flank|TXNRD1_ENST00000378070.4_5'Flank|TXNRD1_ENST00000388854.3_Splice_Site|TXNRD1_ENST00000542918.1_5'Flank|TXNRD1_ENST00000429002.2_Intron	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN	thioredoxin reductase 1						cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	ATGTCATGTGGTAGGTGAGGC	0.547																																					.	Ovarian(139;555 1836 9186 9946 10884)	Atlas-SNP	.											.	TXNRD1	77	.	0			c.10+1G>T						PASS	.						222.0	228.0	226.0					12																	104681125		1962	4143	6105	SO:0001630	splice_region_variant	7296	exon1			CATGTGGTAGGTG		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000526691.1:c.10+1G>T	chr12.hg19:g.104681125G>T		65.0	0.0	.		53.0	14.0	.	NM_003330	B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Splice_Site	SNP	ENST00000526691.1	hg19	CCDS53821.1	.	.	.	.	.	.	.	.	.	.	G	5.535	0.283666	0.10458	.	.	ENSG00000198431	ENST00000526691;ENST00000388854	.	.	.	3.21	-3.02	0.05446	.	.	.	.	.	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.979	0.03422	0.1043:0.3057:0.2794:0.3105	.	.	.	.	.	-1	.	.	.	+	.	.	TXNRD1	103205255	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.113000	0.10774	-0.676000	0.05238	0.555000	0.69702	.	.	.	.	none		0.547	TXNRD1-002	KNOWN	basic|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389970.2	NM_003330	Intron
WDR66	144406	hgsc.bcm.edu	37	12	122389412	122389412	+	Silent	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr12:122389412C>T	ENST00000288912.4	+	9	2150	c.1296C>T	c.(1294-1296)caC>caT	p.H432H	WDR66_ENST00000397454.2_Silent_p.H432H	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	432							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CACTGGCTCACAGTGCCCCAC	0.368																																					p.H432H	Esophageal Squamous(85;849 1794 49757 52143)	Atlas-SNP	.											.	WDR66	143	.	0			c.C1296T						PASS	.						103.0	88.0	93.0					12																	122389412		1836	4098	5934	SO:0001819	synonymous_variant	144406	exon9			GGCTCACAGTGCC	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1296C>T	chr12.hg19:g.122389412C>T		102.0	0.0	.		97.0	24.0	.	NM_001178003	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	hg19	CCDS41853.1																																																																																			.	.	.	none		0.368	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
DIAPH3	81624	hgsc.bcm.edu	37	13	60384950	60384950	+	Silent	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr13:60384950C>T	ENST00000400324.4	-	25	3355	c.3135G>A	c.(3133-3135)aaG>aaA	p.K1045K	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Silent_p.K999K|DIAPH3_ENST00000400319.1_Silent_p.K975K|DIAPH3_ENST00000267215.4_Silent_p.K1045K|DIAPH3_ENST00000400330.1_Silent_p.K1045K|DIAPH3_ENST00000377908.2_Silent_p.K1034K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1045					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AACGCTTTTTCTTTTGTTGGC	0.308																																					p.K1045K		Atlas-SNP	.											DIAPH3,right_lower_lobe,carcinoma,0,1	DIAPH3	139	.	0			c.G3135A						PASS	.						156.0	144.0	148.0					13																	60384950		1799	4059	5858	SO:0001819	synonymous_variant	81624	exon25			CTTTTTCTTTTGT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3135G>A	chr13.hg19:g.60384950C>T		73.0	0.0	.		69.0	16.0	.	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	hg19	CCDS41898.1																																																																																			.	.	.	none		0.308	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
PABPN1	8106	hgsc.bcm.edu	37	14	23792661	23792661	+	Missense_Mutation	SNP	C	C	A	rs145369012		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr14:23792661C>A	ENST00000216727.4	+	4	791	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	PABPN1_ENST00000397276.2_Missense_Mutation_p.L204M|BCL2L2-PABPN1_ENST00000553781.1_Missense_Mutation_p.L231M|BCL2L2-PABPN1_ENST00000557008.1_Missense_Mutation_p.L231M|PABPN1_ENST00000556821.1_Missense_Mutation_p.L76M|PABPN1_ENST00000557702.1_Missense_Mutation_p.L76M|AL049829.1_ENST00000594872.1_5'Flank	NM_004643.3	NP_004634.1	Q86U42	PABP2_HUMAN	poly(A) binding protein, nuclear 1	204	Necessary for homooligomerization.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|modification by virus of host mRNA processing (GO:0046778)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|muscle contraction (GO:0006936)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		TGTTACCATACTGTGTGACAA	0.383																																					p.L231M		Atlas-SNP	.											.	.	.	.	0			c.C691A						PASS	.						95.0	94.0	94.0					14																	23792661		2203	4300	6503	SO:0001583	missense	100529063	exon6			ACCATACTGTGTG	AF026029	CCDS9592.1	14q11.2	2013-02-12	2001-11-28		ENSG00000100836	ENSG00000100836		"""RNA binding motif (RRM) containing"""	8565	protein-coding gene	gene with protein product		602279	"""poly(A)-binding protein, nuclear 1"""	OPMD, PABP2		7795598	Standard	NM_004643		Approved	PAB2		Q86U42	OTTHUMG00000028739	ENST00000216727.4:c.610C>A	chr14.hg19:g.23792661C>A	ENSP00000216727:p.Leu204Met	47.0	0.0	.		58.0	12.0	.	NM_001199864	D3DS49|O43484	Missense_Mutation	SNP	ENST00000216727.4	hg19	CCDS9592.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.62|19.62	3.862406|3.862406	0.71949|0.71949	.|.	.|.	ENSG00000258643;ENSG00000258643;ENSG00000100836;ENSG00000100836;ENSG00000100836;ENSG00000100836|ENSG00000100836	ENST00000553781;ENST00000557008;ENST00000216727;ENST00000397276;ENST00000556821;ENST00000557702|ENST00000555295	T;T;T;T;T;T|.	0.15834|.	2.39;2.39;2.39;2.39;2.39;2.39|.	4.88|4.88	4.88|4.88	0.63580|0.63580	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.58032|0.58032	0.2094|0.2094	L|L	0.33137|0.33137	0.985|0.985	0.53688|0.53688	D|D	0.999979|0.999979	D;D;P|.	0.62365|.	0.983;0.991;0.592|.	D;P;P|.	0.69142|.	0.962;0.907;0.823|.	T|T	0.54050|0.54050	-0.8351|-0.8351	10|5	0.51188|.	T|.	0.08|.	-13.407|-13.407	17.1586|17.1586	0.86798|0.86798	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	204;204;231|.	Q86U42;Q86U42-2;G3V5R7|.	PABP2_HUMAN;.;.|.	M|N	231;231;204;204;76;76|3	ENSP00000451320:L231M;ENSP00000452479:L231M;ENSP00000216727:L204M;ENSP00000380446:L204M;ENSP00000451970:L76M;ENSP00000450724:L76M|.	ENSP00000216727:L204M|.	L|T	+|+	1|2	2|0	PABPN1;RP11-124D2.2|PABPN1	22862501|22862501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	4.154000|4.154000	0.58125|0.58125	2.401000|2.401000	0.81631|0.81631	0.555000|0.555000	0.69702|0.69702	CTG|ACT	.	C|1.000;T|0.000	.	alt		0.383	PABPN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071767.4	NM_004643	
DOC2A	8448	hgsc.bcm.edu	37	16	30021517	30021517	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:30021517C>T	ENST00000350119.4	-	2	217	c.27G>A	c.(25-27)atG>atA	p.M9I	DOC2A_ENST00000564979.1_Missense_Mutation_p.M9I|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Missense_Mutation_p.M9I	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	9	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGTTGATGGTCATGCGATCGC	0.652																																					p.M9I		Atlas-SNP	.											.	DOC2A	40	.	0			c.G27A						PASS	.						67.0	68.0	68.0					16																	30021517		2197	4300	6497	SO:0001583	missense	8448	exon2			GATGGTCATGCGA	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.27G>A	chr16.hg19:g.30021517C>T	ENSP00000340017:p.Met9Ile	113.0	0.0	.		70.0	8.0	.	NM_003586	B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Missense_Mutation	SNP	ENST00000350119.4	hg19	CCDS10666.1	.	.	.	.	.	.	.	.	.	.	c	11.50	1.657555	0.29425	.	.	ENSG00000149927	ENST00000350119	D	0.91011	-2.77	4.14	4.14	0.48551	.	0.000000	0.45126	U	0.000382	T	0.79452	0.4448	N	0.08118	0	0.30052	N	0.811696	B	0.13145	0.007	B	0.09377	0.004	T	0.69049	-0.5248	10	0.17832	T	0.49	.	13.9735	0.64257	0.0:1.0:0.0:0.0	.	9	Q14183	DOC2A_HUMAN	I	9	ENSP00000340017:M9I	ENSP00000340017:M9I	M	-	3	0	DOC2A	29929018	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.871000	0.48459	2.149000	0.67028	0.457000	0.33378	ATG	.	.	.	none		0.652	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586	
SLC5A2	6524	hgsc.bcm.edu	37	16	31500225	31500225	+	Silent	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:31500225A>T	ENST00000330498.3	+	11	1324	c.1305A>T	c.(1303-1305)gtA>gtT	p.V435V	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	435					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-affinity glucose:sodium symporter activity (GO:0005362)			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25					Canagliflozin(DB08907)|Dapagliflozin(DB06292)	TCATCGTGGTAGTGTCGGTGG	0.692																																					p.V435V		Atlas-SNP	.											.	SLC5A2	58	.	0			c.A1305T						PASS	.						56.0	53.0	54.0					16																	31500225		2197	4299	6496	SO:0001819	synonymous_variant	6524	exon11			CGTGGTAGTGTCG		CCDS10714.1	16p11.2	2013-05-22			ENSG00000140675	ENSG00000140675		"""Solute carriers"""	11037	protein-coding gene	gene with protein product		182381		SGLT2		8244402	Standard	NM_003041		Approved		uc002ecf.4	P31639	OTTHUMG00000176620	ENST00000330498.3:c.1305A>T	chr16.hg19:g.31500225A>T		46.0	0.0	.		40.0	11.0	.	NM_003041	A2RRD2	Silent	SNP	ENST00000330498.3	hg19	CCDS10714.1																																																																																			.	.	.	none		0.692	SLC5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255627.2		
BRD7	29117	hgsc.bcm.edu	37	16	50373920	50373920	+	Silent	SNP	C	C	T	rs150219867		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:50373920C>T	ENST00000394688.3	-	6	828	c.669G>A	c.(667-669)aaG>aaA	p.K223K	BRD7_ENST00000394689.2_Silent_p.K223K			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	223					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AGTGCAACAGCTTCTTTGCAG	0.343																																					p.K223K		Atlas-SNP	.											.	BRD7	61	.	0			c.G669A						PASS	.	C	,	0,4396		0,0,2198	120.0	121.0	120.0		669,669	5.3	1.0	16	dbSNP_134	120	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	BRD7	NM_001173984.2,NM_013263.4	,	0,1,6494	TT,TC,CC		0.0116,0.0,0.0077	,	223/653,223/652	50373920	1,12989	2198	4297	6495	SO:0001819	synonymous_variant	29117	exon6			CAACAGCTTCTTT	AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.669G>A	chr16.hg19:g.50373920C>T		156.0	0.0	.		165.0	45.0	.	NM_013263	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Silent	SNP	ENST00000394688.3	hg19	CCDS10742.1																																																																																			.	C|1.000;T|0.000	0.000	weak		0.343	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3	NM_013263	
IST1	9798	hgsc.bcm.edu	37	16	71950997	71950997	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:71950997C>A	ENST00000378799.6	+	4	673	c.317C>A	c.(316-318)gCt>gAt	p.A106D	IST1_ENST00000378798.5_Missense_Mutation_p.A106D|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000541571.2_Missense_Mutation_p.A106D|IST1_ENST00000329908.8_Missense_Mutation_p.A106D|IST1_ENST00000538850.1_Intron|IST1_ENST00000606369.1_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.A119D|IST1_ENST00000544564.1_Missense_Mutation_p.A106D|IST1_ENST00000538565.1_Intron			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	106	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)										TTGATCTGGGCTGCTCCTCGA	0.368																																					p.A119D		Atlas-SNP	.											.	.	.	.	0			c.C356A						PASS	.						87.0	85.0	86.0					16																	71950997		2198	4298	6496	SO:0001583	missense	9798	exon5			TCTGGGCTGCTCC	BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.317C>A	chr16.hg19:g.71950997C>A	ENSP00000368076:p.Ala106Asp	56.0	0.0	.		50.0	11.0	.	NM_001270976	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	hg19	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	C	35	5.586842	0.96578	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000329908;ENST00000378798;ENST00000456820	.	.	.	5.81	5.81	0.92471	Domain of unknown function DUF292, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.86611	0.5974	M	0.91510	3.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.995;0.984;0.987;0.997	D	0.88631	0.3169	9	0.87932	D	0	-6.0333	20.0758	0.97742	0.0:1.0:0.0:0.0	.	106;106;106;119	P53990;P53990-2;P53990-3;A8KAH5	IST1_HUMAN;.;.;.	D	119;106;106;106;106;44	.	ENSP00000330408:A106D	A	+	2	0	KIAA0174	70508498	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.783000	0.85696	2.763000	0.94921	0.650000	0.86243	GCT	.	.	.	none		0.368	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2	NM_014761	
C16orf46	123775	hgsc.bcm.edu	37	16	81094893	81094893	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:81094893A>T	ENST00000299578.5	-	4	1296	c.1061T>A	c.(1060-1062)gTt>gAt	p.V354D	C16orf46_ENST00000444657.3_5'Flank|C16orf46_ENST00000378611.4_Missense_Mutation_p.V354D|RP11-303E16.8_ENST00000564536.1_RNA	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	354						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						CTTTGGGAGAACATGCTTTCG	0.498																																					p.V354D		Atlas-SNP	.											.	C16orf46	57	.	0			c.T1061A						PASS	.						160.0	153.0	155.0					16																	81094893		2202	4300	6502	SO:0001583	missense	123775	exon3			GGGAGAACATGCT	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.1061T>A	chr16.hg19:g.81094893A>T	ENSP00000299578:p.Val354Asp	87.0	0.0	.		94.0	26.0	.	NM_001100873	Q96MA7	Missense_Mutation	SNP	ENST00000299578.5	hg19	CCDS10932.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.797893	0.31777	.	.	ENSG00000166455	ENST00000378611;ENST00000444657;ENST00000299578	T;T	0.19105	2.17;2.17	4.95	0.684	0.18003	.	1.443920	0.04336	N	0.353206	T	0.12008	0.0292	N	0.19112	0.55	0.09310	N	1	P;P	0.43701	0.815;0.815	B;B	0.37304	0.246;0.246	T	0.16335	-1.0406	10	0.59425	D	0.04	.	1.2725	0.02024	0.4007:0.2939:0.0958:0.2095	.	354;354	Q6P387-2;Q6P387	.;CP046_HUMAN	D	354;81;354	ENSP00000367874:V354D;ENSP00000299578:V354D	ENSP00000299578:V354D	V	-	2	0	C16orf46	79652394	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	0.226000	0.17776	0.317000	0.23160	0.450000	0.29827	GTT	.	.	.	none		0.498	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337	
MED11	400569	hgsc.bcm.edu	37	17	4636405	4636405	+	Missense_Mutation	SNP	G	G	A	rs376931968		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:4636405G>A	ENST00000293777.5	+	3	333	c.277G>A	c.(277-279)Gct>Act	p.A93T	RP11-314A20.5_ENST00000570493.2_RNA|CXCL16_ENST00000576153.1_5'Flank|MED11_ENST00000575284.1_3'UTR	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	93						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			lung(2)|ovary(2)	4						CTGTCAGATGGCTCTGAAGCG	0.567																																					p.A93T		Atlas-SNP	.											.	MED11	5	.	0			c.G277A						PASS	.	G	THR/ALA	0,4406		0,0,2203	109.0	85.0	93.0		277	5.7	1.0	17		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED11	NM_001001683.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	93/118	4636405	1,13005	2203	4300	6503	SO:0001583	missense	400569	exon3			CAGATGGCTCTGA	AF161414	CCDS32533.1	17p13.2	2007-07-30	2007-07-30			ENSG00000161920			32687	protein-coding gene	gene with protein product		612383	"""mediator of RNA polymerase II transcription, subunit 11 homolog (S. cerevisiae)"""			15175163, 12584197	Standard	NM_001001683		Approved	HSPC296, MGC88387	uc002fyp.3	Q9P086		ENST00000293777.5:c.277G>A	chr17.hg19:g.4636405G>A	ENSP00000293777:p.Ala93Thr	92.0	0.0	.		69.0	31.0	.	NM_001001683	Q6NS89	Missense_Mutation	SNP	ENST00000293777.5	hg19	CCDS32533.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390757	0.95988	0.0	1.16E-4	ENSG00000161920	ENST00000293777	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.77805	0.4185	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79017	-0.1975	9	0.87932	D	0	-5.2699	17.3997	0.87456	0.0:0.0:1.0:0.0	.	93	Q9P086	MED11_HUMAN	T	93	.	ENSP00000293777:A93T	A	+	1	0	MED11	4583154	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.027000	0.70881	2.703000	0.92315	0.655000	0.94253	GCT	.	.	.	weak		0.567	MED11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439574.1	NM_001001683	
NLRP1	22861	hgsc.bcm.edu	37	17	5461748	5461748	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:5461748G>A	ENST00000572272.1	-	4	2267	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	NLRP1_ENST00000269280.4_Silent_p.F756F|NLRP1_ENST00000345221.3_Silent_p.F756F|NLRP1_ENST00000577119.1_Silent_p.F756F|NLRP1_ENST00000354411.3_Silent_p.F756F|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000262467.5_Silent_p.F756F			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	756					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ATTTAATGCAGAAAGTGCACA	0.498																																					p.F756F		Atlas-SNP	.											.	NLRP1	358	.	0			c.C2268T						PASS	.						101.0	101.0	101.0					17																	5461748		2203	4300	6503	SO:0001819	synonymous_variant	22861	exon4			AATGCAGAAAGTG	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.2268C>T	chr17.hg19:g.5461748G>A		134.0	0.0	.		65.0	24.0	.	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	hg19	CCDS42246.1																																																																																			.	.	.	none		0.498	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
FLCN	201163	hgsc.bcm.edu	37	17	17117172	17117172	+	Splice_Site	SNP	T	T	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:17117172T>G	ENST00000285071.4	-	14	1993		c.e14-2		RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin						cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTCACTTTGCTGAAGAAAACC	0.547									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																												.		Atlas-SNP	.											.	FLCN	87	.	0			c.1539-2A>C						PASS	.						136.0	125.0	129.0					17																	17117172		2203	4300	6503	SO:0001630	splice_region_variant	201163	exon15	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	CTTTGCTGAAGAA	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1539-2A>C	chr17.hg19:g.17117172T>G		37.0	0.0	.		33.0	10.0	.	NM_144997	A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Splice_Site	SNP	ENST00000285071.4	hg19	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.654937	0.47467	.	.	ENSG00000154803	ENST00000285071	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0781	0.72093	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLCN	17057897	1.000000	0.71417	0.982000	0.44146	0.327000	0.28475	7.762000	0.85270	1.960000	0.56953	0.459000	0.35465	.	.	.	.	none		0.547	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606	Intron
MED1	5469	hgsc.bcm.edu	37	17	37566430	37566430	+	Missense_Mutation	SNP	A	A	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:37566430A>T	ENST00000300651.6	-	17	2267	c.2044T>A	c.(2044-2046)Tcg>Acg	p.S682T	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTGCTCCCCGAGCATATTTCC	0.453										HNSCC(31;0.082)																											p.S682T	Pancreas(21;279 768 2492 4877 24026)	Atlas-SNP	.											.	MED1	123	.	0			c.T2044A						PASS	.						98.0	103.0	101.0					17																	37566430		2203	4300	6503	SO:0001583	missense	5469	exon17			TCCCCGAGCATAT	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2044T>A	chr17.hg19:g.37566430A>T	ENSP00000300651:p.Ser682Thr	122.0	0.0	.		122.0	69.0	.	NM_004774	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	hg19	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	A	7.772	0.707664	0.15239	.	.	ENSG00000125686	ENST00000300651	T	0.49139	0.79	5.59	0.884	0.19182	.	.	.	.	.	T	0.25269	0.0614	N	0.14661	0.345	0.36509	D	0.869482	B	0.23058	0.079	B	0.23574	0.047	T	0.18023	-1.0350	9	0.09843	T	0.71	2.8342	9.0782	0.36536	0.5401:0.0:0.4599:0.0	.	682	Q15648	MED1_HUMAN	T	682	ENSP00000300651:S682T	ENSP00000300651:S682T	S	-	1	0	MED1	34819956	0.989000	0.36119	0.921000	0.36526	0.904000	0.53231	1.350000	0.34010	0.081000	0.16988	-0.379000	0.06801	TCG	.	.	.	none		0.453	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774	
KRT24	192666	hgsc.bcm.edu	37	17	38858105	38858105	+	Silent	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:38858105C>A	ENST00000264651.2	-	2	752	c.696G>T	c.(694-696)ctG>ctT	p.L232L		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	232	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TTTCTTACTTCAGTCTGAAGT	0.279																																					p.L232L	GBM(61;380 1051 14702 23642 31441)	Atlas-SNP	.											.	KRT24	60	.	0			c.G696T						PASS	.						77.0	70.0	73.0					17																	38858105		2203	4300	6503	SO:0001819	synonymous_variant	192666	exon2			TTACTTCAGTCTG		CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.696G>T	chr17.hg19:g.38858105C>A		381.0	0.0	.		524.0	88.0	.	NM_019016	Q9NXG7	Silent	SNP	ENST00000264651.2	hg19	CCDS11372.1																																																																																			.	.	.	none		0.279	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257217.1	NM_019016	
CCR10	2826	hgsc.bcm.edu	37	17	40831918	40831918	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:40831918C>G	ENST00000332438.4	-	2	761	c.742G>C	c.(742-744)Gtc>Ctc	p.V248L	PLEKHH3_ENST00000412503.1_5'Flank|CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|PLEKHH3_ENST00000293349.6_5'Flank|CCR10_ENST00000591765.1_Missense_Mutation_p.V26L|PLEKHH3_ENST00000591022.1_5'Flank	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	248					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCCACCACGACGCGCAGCGCA	0.731																																					p.V248L		Atlas-SNP	.											.	CCR10	7	.	0			c.G742C						PASS	.						4.0	5.0	5.0					17																	40831918		1909	3828	5737	SO:0001583	missense	2826	exon2			CCACGACGCGCAG	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.742G>C	chr17.hg19:g.40831918C>G	ENSP00000332504:p.Val248Leu	42.0	0.0	.		67.0	32.0	.	NM_016602	Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	hg19	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704066	0.68615	.	.	ENSG00000184451	ENST00000332438	T	0.35048	1.33	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36740	N	0.002421	T	0.24470	0.0593	N	0.21508	0.67	0.30823	N	0.737579	B	0.33103	0.397	B	0.36608	0.229	T	0.15780	-1.0425	10	0.26408	T	0.33	.	9.4162	0.38523	0.2122:0.7878:0.0:0.0	.	248	P46092	CCR10_HUMAN	L	248	ENSP00000332504:V248L	ENSP00000332504:V248L	V	-	1	0	CCR10	38085444	0.699000	0.27786	0.998000	0.56505	0.949000	0.60115	1.382000	0.34374	2.192000	0.70111	0.462000	0.41574	GTC	.	.	.	none		0.731	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602	
LGALS3BP	3959	hgsc.bcm.edu	37	17	76972059	76972059	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr17:76972059C>A	ENST00000262776.3	-	3	540	c.232G>T	c.(232-234)Gcc>Tcc	p.A78S	LGALS3BP_ENST00000585407.1_Missense_Mutation_p.A78S|LGALS3BP_ENST00000591778.1_Missense_Mutation_p.A78S	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	78	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TGCCCGAAGGCAGCTCTGCCC	0.642																																					p.A78S	GBM(89;1105 1755 18102 21513)	Atlas-SNP	.											.	LGALS3BP	47	.	0			c.G232T						PASS	.						32.0	27.0	29.0					17																	76972059		2203	4300	6503	SO:0001583	missense	3959	exon3			CGAAGGCAGCTCT	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.232G>T	chr17.hg19:g.76972059C>A	ENSP00000262776:p.Ala78Ser	109.0	0.0	.		115.0	25.0	.	NM_005567	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Missense_Mutation	SNP	ENST00000262776.3	hg19	CCDS11759.1	.	.	.	.	.	.	.	.	.	.	C	2.801	-0.249233	0.05867	.	.	ENSG00000108679	ENST00000262776;ENST00000536190	T	0.44482	0.92	3.54	0.364	0.16124	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.37955	N	0.001871	T	0.28532	0.0706	L	0.43598	1.365	0.09310	N	1	B	0.13594	0.008	B	0.23716	0.048	T	0.15925	-1.0420	10	0.22706	T	0.39	-21.8161	5.4055	0.16318	0.0:0.6289:0.1678:0.2033	.	78	Q08380	LG3BP_HUMAN	S	78	ENSP00000262776:A78S	ENSP00000262776:A78S	A	-	1	0	LGALS3BP	74483654	0.000000	0.05858	0.132000	0.22025	0.005000	0.04900	0.048000	0.14078	0.137000	0.18759	-0.175000	0.13238	GCC	.	.	.	none		0.642	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567	
ILVBL	10994	hgsc.bcm.edu	37	19	15230035	15230035	+	Silent	SNP	G	G	C	rs372631950		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:15230035G>C	ENST00000263383.3	-	9	1132	c.993C>G	c.(991-993)ctC>ctG	p.L331L	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Silent_p.L224L	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	331						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CCCGGATGTGGAGGGGGTGGT	0.642																																					p.L331L		Atlas-SNP	.											.	ILVBL	54	.	0			c.C993G						PASS	.						63.0	60.0	61.0					19																	15230035		2203	4300	6503	SO:0001819	synonymous_variant	10994	exon9			GATGTGGAGGGGG	U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.993C>G	chr19.hg19:g.15230035G>C		114.0	0.0	.		95.0	24.0	.	NM_006844	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	hg19	CCDS12325.1																																																																																			.	.	.	alt		0.642	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844	
OCEL1	79629	hgsc.bcm.edu	37	19	17338767	17338767	+	Missense_Mutation	SNP	A	A	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:17338767A>G	ENST00000215061.4	+	4	615	c.571A>G	c.(571-573)Agg>Ggg	p.R191G	OCEL1_ENST00000601529.1_Intron|OCEL1_ENST00000597836.1_Missense_Mutation_p.R135G	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	191										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GGCAAAGCTCAGGCAGCTGGA	0.647																																					p.R191G		Atlas-SNP	.											.	OCEL1	20	.	0			c.A571G						PASS	.						77.0	71.0	73.0					19																	17338767		2203	4300	6503	SO:0001583	missense	79629	exon4			AAGCTCAGGCAGC	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.571A>G	chr19.hg19:g.17338767A>G	ENSP00000215061:p.Arg191Gly	90.0	0.0	.		66.0	16.0	.	NM_024578		Missense_Mutation	SNP	ENST00000215061.4	hg19	CCDS12351.1	.	.	.	.	.	.	.	.	.	.	A	6.428	0.447122	0.12223	.	.	ENSG00000099330	ENST00000215061	T	0.22134	1.97	4.38	0.922	0.19408	Occludin/RNA polymerase II elongation factor, ELL domain (1);	0.416025	0.24722	N	0.036134	T	0.15132	0.0365	L	0.29908	0.895	0.09310	N	1	B	0.33777	0.425	B	0.39971	0.315	T	0.14448	-1.0472	10	0.46703	T	0.11	-49.3573	4.741	0.13012	0.4036:0.4895:0.0:0.107	.	191	Q9H607	OCEL1_HUMAN	G	191	ENSP00000215061:R191G	ENSP00000215061:R191G	R	+	1	2	OCEL1	17199767	0.033000	0.19621	0.011000	0.14972	0.023000	0.10783	0.392000	0.20801	0.090000	0.17273	-0.396000	0.06452	AGG	.	.	.	none		0.647	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578	
ZNF302	55900	hgsc.bcm.edu	37	19	35175271	35175271	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:35175271C>T	ENST00000446502.2	+	6	669	c.461C>T	c.(460-462)tCa>tTa	p.S154L	ZNF302_ENST00000423823.2_Missense_Mutation_p.S110L|ZNF302_ENST00000505242.1_Missense_Mutation_p.S110L|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000509528.1_3'UTR|ZNF302_ENST00000457781.2_Missense_Mutation_p.S110L|ZNF302_ENST00000507959.1_3'UTR			Q9NR11	ZN302_HUMAN	zinc finger protein 302	189					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)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TATGAATTTTCAAATTCTAAT	0.313																																					p.S110L		Atlas-SNP	.											.	ZNF302	27	.	0			c.C329T						PASS	.						34.0	36.0	36.0					19																	35175271		2068	4215	6283	SO:0001583	missense	55900	exon5			AATTTTCAAATTC	AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.461C>T	chr19.hg19:g.35175271C>T	ENSP00000396379:p.Ser154Leu	638.0	1.0	.		579.0	137.0	.	NM_018443	Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	ENST00000446502.2	hg19		.	.	.	.	.	.	.	.	.	.	C	7.884	0.730866	0.15507	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000505163;ENST00000423823;ENST00000446502	T;T;T;T;T	0.05447	3.48;3.48;5.94;3.48;3.44	0.967	0.967	0.19674	.	.	.	.	.	T	0.06096	0.0158	L	0.49699	1.58	0.09310	N	1	B;B	0.27656	0.18;0.184	B;B	0.30029	0.11;0.1	T	0.42344	-0.9457	9	0.16896	T	0.51	.	5.2771	0.15655	0.0:1.0:0.0:0.0	.	154;110	E7EVR1;Q9NR11-2	.;.	L	110;110;110;110;154	ENSP00000391067:S110L;ENSP00000421028:S110L;ENSP00000421696:S110L;ENSP00000405219:S110L;ENSP00000396379:S154L	ENSP00000405219:S110L	S	+	2	0	ZNF302	39867111	0.970000	0.33590	0.035000	0.18076	0.038000	0.13279	1.590000	0.36654	0.822000	0.34565	0.467000	0.42956	TCA	.	.	.	none		0.313	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000372731.1		
DBP	1628	hgsc.bcm.edu	37	19	49136816	49136816	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:49136816C>T	ENST00000222122.5	-	3	1090	c.647G>A	c.(646-648)aGc>aAc	p.S216N	DBP_ENST00000601104.1_Missense_Mutation_p.S216N|DBP_ENST00000593500.1_Missense_Mutation_p.S14N|DBP_ENST00000599385.1_Missense_Mutation_p.S14N	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	216	Pro-rich (proline/acidic region (PAR)).				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	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 regulatory region sequence-specific DNA binding (GO:0000977)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		GCCAGGAATGCTTGATAGGGC	0.547																																					p.S216N		Atlas-SNP	.											.	DBP	16	.	0			c.G647A						PASS	.						206.0	187.0	194.0					19																	49136816		2203	4300	6503	SO:0001583	missense	1628	exon3			GGAATGCTTGATA	U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.647G>A	chr19.hg19:g.49136816C>T	ENSP00000222122:p.Ser216Asn	69.0	0.0	.		71.0	20.0	.	NM_001352	A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	hg19	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491562	0.84962	.	.	ENSG00000105516	ENST00000222122	.	.	.	4.9	4.9	0.64082	.	0.125072	0.56097	U	0.000037	T	0.76062	0.3935	M	0.80183	2.485	0.48452	D	0.99965	B	0.33826	0.427	B	0.43916	0.436	T	0.79470	-0.1790	9	0.72032	D	0.01	-16.9925	15.9611	0.79930	0.0:1.0:0.0:0.0	.	216	Q10586	DBP_HUMAN	N	216	.	ENSP00000222122:S216N	S	-	2	0	DBP	53828628	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.956000	0.70315	2.443000	0.82685	0.655000	0.94253	AGC	.	.	.	none		0.547	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1	NM_001352	
ZNF615	284370	hgsc.bcm.edu	37	19	52496921	52496921	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr19:52496921C>G	ENST00000602063.1	-	6	1757	c.1408G>C	c.(1408-1410)Gac>Cac	p.D470H	ZNF615_ENST00000391795.3_Missense_Mutation_p.D475H|ZNF615_ENST00000594083.1_Missense_Mutation_p.D481H|ZNF615_ENST00000376716.5_Missense_Mutation_p.D470H|ZNF615_ENST00000598071.1_Missense_Mutation_p.D481H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	470					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)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		ACAATGAGGTCACTCTTCATG	0.448																																					p.D481H		Atlas-SNP	.											.	ZNF615	111	.	0			c.G1441C						PASS	.						117.0	94.0	102.0					19																	52496921		2203	4300	6503	SO:0001583	missense	284370	exon7			TGAGGTCACTCTT	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1408G>C	chr19.hg19:g.52496921C>G	ENSP00000473089:p.Asp470His	104.0	0.0	.		117.0	35.0	.	NM_001199324	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	ENST00000602063.1	hg19	CCDS12846.1	.	.	.	.	.	.	.	.	.	.	C	8.278	0.814789	0.16607	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.07800	3.16;3.16	2.85	0.197	0.15164	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01905	0.0060	N	0.01631	-0.79	0.09310	N	1	B;B;B;B	0.29612	0.251;0.212;0.212;0.251	B;B;B;B	0.19666	0.026;0.015;0.015;0.026	T	0.42224	-0.9464	9	0.14656	T	0.56	.	0.347	0.00343	0.2249:0.3157:0.2214:0.238	.	475;477;481;470	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	H	470;480;475;480	ENSP00000365906:D470H;ENSP00000375672:D475H	ENSP00000347019:D480H	D	-	1	0	ZNF615	57188733	0.000000	0.05858	0.070000	0.20053	0.934000	0.57294	-3.862000	0.00348	0.463000	0.27118	0.484000	0.47621	GAC	.	.	.	none		0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462391.1	NM_198480	
GPCPD1	56261	hgsc.bcm.edu	37	20	5528358	5528358	+	Missense_Mutation	SNP	C	C	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr20:5528358C>A	ENST00000379019.4	-	20	2180	c.1968G>T	c.(1966-1968)gaG>gaT	p.E656D	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	656					glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)	glycerophosphocholine phosphodiesterase activity (GO:0047389)|starch binding (GO:2001070)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GGATATCAGACTCCCCACACA	0.493																																					p.E656D		Atlas-SNP	.											.	GPCPD1	52	.	0			c.G1968T						PASS	.						172.0	153.0	160.0					20																	5528358		2203	4300	6503	SO:0001583	missense	56261	exon20			ATCAGACTCCCCA		CCDS13090.1	20p12.3	2011-01-25			ENSG00000125772	ENSG00000125772			26957	protein-coding gene	gene with protein product		614124				10718198, 20576599	Standard	NM_019593		Approved	KIAA1434, GDE5, GDPD6	uc002wme.4	Q9NPB8	OTTHUMG00000031806	ENST00000379019.4:c.1968G>T	chr20.hg19:g.5528358C>A	ENSP00000368305:p.Glu656Asp	173.0	0.0	.		200.0	88.0	.	NM_019593	D3DW06|Q9BQL8|Q9NUX0	Missense_Mutation	SNP	ENST00000379019.4	hg19	CCDS13090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	0.001|0.001	-2.880142|-2.880142	0.00061|0.00061	.|.	.|.	ENSG00000125772|ENSG00000125772	ENST00000378992;ENST00000379019|ENST00000418646	T|.	0.45276|.	0.9|.	5.1|5.1	-4.36|-4.36	0.03645|0.03645	.|.	0.767687|.	0.12385|.	N|.	0.473542|.	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.27054|0.27054	-1.0085|-1.0085	10|5	0.17832|.	T|.	0.49|.	-3.4601|-3.4601	2.3414|2.3414	0.04261|0.04261	0.3675:0.2675:0.239:0.126|0.3675:0.2675:0.239:0.126	.|.	656|.	Q9NPB8|.	GPCP1_HUMAN|.	D|F	273;656|248	ENSP00000368305:E656D|.	ENSP00000368277:E273D|.	E|V	-|-	3|1	2|0	GPCPD1|GPCPD1	5476358|5476358	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.022000|0.022000	0.10575|0.10575	-0.385000|-0.385000	0.07379|0.07379	-0.580000|-0.580000	0.05944|0.05944	-2.769000|-2.769000	0.00120|0.00120	GAG|GTC	.	.	.	none		0.493	GPCPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077869.1	NM_019593	
MYT1	4661	hgsc.bcm.edu	37	20	62839660	62839660	+	Missense_Mutation	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr20:62839660G>A	ENST00000328439.1	+	7	1475	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	MYT1_ENST00000536311.1_Missense_Mutation_p.D371N|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGATGCAGGACATGATGAC	0.622																																					p.D371N	GBM(59;481 1041 20555 21139 33705)	Atlas-SNP	.											.	MYT1	152	.	0			c.G1111A						PASS	.						81.0	74.0	77.0					20																	62839660		2203	4300	6503	SO:0001583	missense	4661	exon7			ATGCAGGACATGA	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1111G>A	chr20.hg19:g.62839660G>A	ENSP00000327465:p.Asp371Asn	197.0	0.0	.		219.0	92.0	.	NM_004535	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	hg19	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	17.27	3.348108	0.61183	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.29142	2.62;1.58	4.46	4.46	0.54185	.	0.055231	0.64402	D	0.000001	T	0.51686	0.1689	M	0.67700	2.07	0.80722	D	1	D;D	0.71674	0.998;0.983	D;P	0.81914	0.995;0.824	T	0.47420	-0.9119	10	0.17369	T	0.5	-22.5659	17.157	0.86794	0.0:0.0:1.0:0.0	.	371;371	F5H7M8;Q01538	.;MYT1_HUMAN	N	371	ENSP00000327465:D371N;ENSP00000442412:D371N	ENSP00000327465:D371N	D	+	1	0	MYT1	62310104	1.000000	0.71417	0.902000	0.35471	0.467000	0.32768	9.529000	0.98049	2.051000	0.60960	0.450000	0.29827	GAC	.	.	.	none		0.622	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535	
MRPL39	54148	hgsc.bcm.edu	37	21	26979768	26979768	+	Missense_Mutation	SNP	C	C	T	rs115649519	byFrequency	TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr21:26979768C>T	ENST00000352957.4	-	1	61	c.20G>A	c.(19-21)gGt>gAt	p.G7D	MRPL39_ENST00000307301.7_Missense_Mutation_p.G7D	NM_017446.3	NP_059142	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	7						mitochondrial ribosome (GO:0005761)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CGCCCGGGAACCCATGGCCAG	0.667											OREG0026146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G7D		Atlas-SNP	.											.	MRPL39	61	.	0			c.G20A						PASS	.						42.0	45.0	44.0					21																	26979768		2203	4300	6503	SO:0001583	missense	54148	exon1			CGGGAACCCATGG	AB051346	CCDS13573.1, CCDS33522.1	21q11.2-q21	2012-09-13			ENSG00000154719	ENSG00000154719		"""Mitochondrial ribosomal proteins / large subunits"""	14027	protein-coding gene	gene with protein product		611845				11543634	Standard	NM_080794		Approved	RPML5, MRP-L5, MGC104174, PRED66, PRED22, C21orf92, L39mt, MSTP003, MGC3400, FLJ20451	uc002yln.3	Q9NYK5	OTTHUMG00000078371	ENST00000352957.4:c.20G>A	chr21.hg19:g.26979768C>T	ENSP00000284967:p.Gly7Asp	33.0	0.0	.	790	27.0	5.0	.	NM_017446	C9JYA5|Q32Q74|Q5QTR3|Q96Q65|Q9BSQ7|Q9BZV6|Q9NX44	Missense_Mutation	SNP	ENST00000352957.4	hg19	CCDS13573.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214123	0.39102	.	.	ENSG00000154719	ENST00000352957;ENST00000307301;ENST00000419219	T;T;T	0.42131	0.98;0.98;0.98	4.08	-1.2	0.09554	.	1.221540	0.06023	N	0.651593	T	0.23492	0.0568	N	0.08118	0	0.09310	N	1	P;P	0.36837	0.571;0.571	B;B	0.35688	0.161;0.208	T	0.28235	-1.0050	10	0.72032	D	0.01	-9.7196	8.1526	0.31150	0.2611:0.2352:0.5037:0.0	.	7;7	Q9NYK5;Q9NYK5-2	RM39_HUMAN;.	D	7	ENSP00000284967:G7D;ENSP00000305682:G7D;ENSP00000404426:G7D	ENSP00000305682:G7D	G	-	2	0	MRPL39	25901639	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.262000	0.18460	-0.234000	0.09782	0.655000	0.94253	GGT	.	C|0.999;A|0.001	.	alt		0.667	MRPL39-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000171194.1	NM_017446	
TUBA8	51807	hgsc.bcm.edu	37	22	18609451	18609451	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:18609451T>C	ENST00000330423.3	+	4	779	c.706T>C	c.(706-708)Tcc>Ccc	p.S236P	TUBA8_ENST00000316027.6_Missense_Mutation_p.S170P	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	236					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						TCAGATTGTGTCCTCAATCAC	0.557																																					p.S236P		Atlas-SNP	.											.	TUBA8	36	.	0			c.T706C						PASS	.						149.0	128.0	135.0					22																	18609451		2203	4300	6503	SO:0001583	missense	51807	exon4			ATTGTGTCCTCAA	AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.706T>C	chr22.hg19:g.18609451T>C	ENSP00000333326:p.Ser236Pro	87.0	0.0	.		99.0	35.0	.	NM_018943	B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	ENST00000330423.3	hg19	CCDS13751.1	.	.	.	.	.	.	.	.	.	.	.	17.58	3.426055	0.62733	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	T;T;T	0.71103	-0.54;-0.54;-0.54	5.67	5.67	0.87782	Tubulin/FtsZ, GTPase domain (3);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.986;0.978;0.999	D	0.90047	0.4146	10	0.87932	D	0	.	15.3851	0.74691	0.0:0.0:0.0:1.0	.	170;260;236	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	P	170;236;260	ENSP00000318575:S170P;ENSP00000333326:S236P;ENSP00000412646:S260P	ENSP00000318575:S170P	S	+	1	0	TUBA8	16989451	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.040000	0.89188	2.288000	0.76882	0.533000	0.62120	TCC	.	.	.	none		0.557	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316232.3	NM_018943	
LZTR1	8216	hgsc.bcm.edu	37	22	21340180	21340180	+	Missense_Mutation	SNP	G	G	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:21340180G>T	ENST00000215739.8	+	3	673	c.314G>T	c.(313-315)tGg>tTg	p.W105L	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	105					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W105L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GACTGCTCCTGGTGCAGGTGG	0.582																																					p.W105L		Atlas-SNP	.											LZTR1,NS,carcinoma,0,1	LZTR1	99	.	1	Substitution - Missense(1)	ovary(1)	c.G314T						PASS	.						86.0	67.0	74.0					22																	21340180		2203	4300	6503	SO:0001583	missense	8216	exon3			GCTCCTGGTGCAG	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.314G>T	chr22.hg19:g.21340180G>T	ENSP00000215739:p.Trp105Leu	50.0	0.0	.		54.0	19.0	.	NM_006767	Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	hg19	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	G	31	5.075613	0.94000	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.61627	0.09	4.52	4.52	0.55395	.	0.145322	0.53938	D	0.000057	D	0.83940	0.5363	H	0.97491	4.015	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.87578	0.998;0.991	D	0.89514	0.3773	10	0.87932	D	0	-23.9298	15.1436	0.72630	0.0:0.0:1.0:0.0	.	105;64	Q8N653;F5GXU8	LZTR1_HUMAN;.	L	64;105	ENSP00000215739:W105L	ENSP00000215739:W105L	W	+	2	0	LZTR1	19670180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.398000	0.97281	2.516000	0.84829	0.643000	0.83706	TGG	.	.	.	none		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767	
CACNG2	10369	hgsc.bcm.edu	37	22	37098524	37098524	+	Missense_Mutation	SNP	C	C	G			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:37098524C>G	ENST00000300105.6	-	1	1079	c.98G>C	c.(97-99)tGg>tCg	p.W33S	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	33					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAGTAGAGCCAATAGTCGGT	0.473																																					p.W33S		Atlas-SNP	.											.	CACNG2	43	.	0			c.G98C						PASS	.						228.0	202.0	211.0					22																	37098524		2203	4300	6503	SO:0001583	missense	10369	exon1			TAGAGCCAATAGT	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.98G>C	chr22.hg19:g.37098524C>G	ENSP00000300105:p.Trp33Ser	135.0	0.0	.		115.0	37.0	.	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Missense_Mutation	SNP	ENST00000300105.6	hg19	CCDS13931.1	.	.	.	.	.	.	.	.	.	.	c	16.00	2.997271	0.54147	.	.	ENSG00000166862	ENST00000300105	D	0.98493	-4.96	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.90650	3.135	0.80722	D	1	P	0.41748	0.761	B	0.42361	0.385	D	0.99919	1.1242	10	0.87932	D	0	-4.7655	17.8661	0.88795	0.0:1.0:0.0:0.0	.	33	Q9Y698	CCG2_HUMAN	S	33	ENSP00000300105:W33S	ENSP00000300105:W33S	W	-	2	0	CACNG2	35428470	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.565000	0.67365	2.192000	0.70111	0.546000	0.68486	TGG	.	.	.	none		0.473	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
UPK3A	7380	hgsc.bcm.edu	37	22	45689097	45689097	+	Missense_Mutation	SNP	C	C	T	rs200899354		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr22:45689097C>T	ENST00000216211.4	+	5	639	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	UPK3A_ENST00000396082.2_Missense_Mutation_p.R82W	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	203					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTGGCCAGGCCGGCGGAGCGG	0.617																																					p.R203W		Atlas-SNP	.											.	UPK3A	14	.	0			c.C607T						PASS	.						136.0	94.0	108.0					22																	45689097		2203	4300	6503	SO:0001583	missense	7380	exon5			CCAGGCCGGCGGA	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.607C>T	chr22.hg19:g.45689097C>T	ENSP00000216211:p.Arg203Trp	51.0	0.0	.		63.0	14.0	.	NM_006953	B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	hg19	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480696	0.63849	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.86164	-0.29;-2.08	5.2	1.63	0.23807	.	0.236572	0.34484	N	0.003922	D	0.90359	0.6983	L	0.56280	1.765	0.39790	D	0.972412	D;P	0.89917	1.0;0.534	D;B	0.91635	0.999;0.097	D	0.90197	0.4254	10	0.87932	D	0	-19.1562	11.5381	0.50651	0.6617:0.3383:0.0:0.0	.	82;203	O75631-2;O75631	.;UPK3A_HUMAN	W	203;82	ENSP00000216211:R203W;ENSP00000379391:R82W	ENSP00000216211:R203W	R	+	1	2	UPK3A	44067761	0.991000	0.36638	0.998000	0.56505	0.998000	0.95712	0.578000	0.23773	0.544000	0.28883	0.650000	0.86243	CGG	.	C|1.000;A|0.000	.	alt		0.617	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953	
MXRA5	25878	hgsc.bcm.edu	37	X	3242168	3242168	+	Missense_Mutation	SNP	T	T	C			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chrX:3242168T>C	ENST00000217939.6	-	5	1712	c.1558A>G	c.(1558-1560)Atc>Gtc	p.I520V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	520	Ig-like C2-type 1.					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)				GCTTTCAGGATGGAGCCATCT	0.532																																					p.I520V		Atlas-SNP	.											.	MXRA5	815	.	0			c.A1558G						PASS	.						57.0	52.0	54.0					X																	3242168		2203	4300	6503	SO:0001583	missense	25878	exon5			TCAGGATGGAGCC	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.1558A>G	chrX.hg19:g.3242168T>C	ENSP00000217939:p.Ile520Val	114.0	0.0	.		167.0	29.0	.	NM_015419	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	hg19	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.732748	0.00089	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65916	-0.18	3.63	0.014	0.14098	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.103140	0.07167	N	0.851802	T	0.31638	0.0803	N	0.03194	-0.395	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.23261	-1.0193	10	0.02654	T	1	.	7.5318	0.27687	0.0:0.341:0.0:0.659	.	520	Q9NR99	MXRA5_HUMAN	V	520	ENSP00000217939:I520V	ENSP00000217939:I520V	I	-	1	0	MXRA5	3252168	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	0.427000	0.21379	0.001000	0.14605	-0.517000	0.04412	ATC	.	.	.	none		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
P2RY10	27334	hgsc.bcm.edu	37	X	78216602	78216602	+	Silent	SNP	G	G	A			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chrX:78216602G>A	ENST00000171757.2	+	4	865	c.585G>A	c.(583-585)ttG>ttA	p.L195L	P2RY10_ENST00000544091.1_Silent_p.L195L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.L195F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAGTTGCGTTGGTCGGGATGA	0.458																																					p.L195L		Atlas-SNP	.											.	P2RY10	99	.	1	Substitution - Missense(1)	large_intestine(1)	c.G585A						PASS	.						162.0	120.0	134.0					X																	78216602		2203	4300	6503	SO:0001819	synonymous_variant	27334	exon2			TGCGTTGGTCGGG	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.585G>A	chrX.hg19:g.78216602G>A		94.0	0.0	.		150.0	48.0	.	NM_198333	D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	hg19	CCDS14442.1																																																																																			.	.	.	none		0.458	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
FRMD7	90167	hgsc.bcm.edu	37	X	131212370	131212370	+	Missense_Mutation	SNP	C	C	T	rs140383991		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chrX:131212370C>T	ENST00000298542.4	-	12	1850	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	FRMD7_ENST00000370879.1_Missense_Mutation_p.G439S|FRMD7_ENST00000464296.1_Missense_Mutation_p.G544S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	559					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCTCCTACCGCTAGTCCTG	0.448													C|||	2	0.000529801	0.0015	0.0	3775	,	,		15652	0.0		0.0	False		,,,				2504	0.0				p.G559S		Atlas-SNP	.											.	FRMD7	69	.	0			c.G1675A						PASS	.	C	SER/GLY	0,3835		0,0,0,1632,571	150.0	139.0	143.0		1675	3.3	0.5	X	dbSNP_134	143	1,6727		0,0,1,2428,1871	no	missense	FRMD7	NM_194277.2	56	0,0,1,4060,2442	TT,TC,T,CC,C		0.0149,0.0,0.0095	benign	559/715	131212370	1,10562	2203	4300	6503	SO:0001583	missense	90167	exon12			TCCTACCGCTAGT	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1675G>A	chrX.hg19:g.131212370C>T	ENSP00000298542:p.Gly559Ser	126.0	0.0	.		150.0	25.0	.	NM_194277	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	hg19	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	2.408	-0.335970	0.05278	0.0	1.49E-4	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.86097	-2.07;-1.73;-1.83	5.26	3.33	0.38152	.	0.116186	0.39210	N	0.001440	T	0.77785	0.4182	L	0.61218	1.895	0.09310	N	1	B;B	0.22746	0.074;0.029	B;B	0.15870	0.01;0.014	T	0.63607	-0.6599	10	0.37606	T	0.19	.	2.8408	0.05528	0.2811:0.4776:0.1451:0.0962	.	544;559	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	S	439;559;544	ENSP00000359916:G439S;ENSP00000298542:G559S;ENSP00000417996:G544S	ENSP00000298542:G559S	G	-	1	0	FRMD7	131040051	0.001000	0.12720	0.535000	0.28026	0.006000	0.05464	0.170000	0.16663	2.190000	0.69967	0.594000	0.82650	GGT	.	C|1.000;T|0.000	0.000	weak		0.448	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
MT-CO2	4513	hgsc.bcm.edu	37	M	7958	7958	+	Missense_Mutation	SNP	C	C	T			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chrM:7958C>T	ENST00000361739.1	+	1	373	c.373C>T	c.(373-375)Cca>Tca	p.P125S	MT-ND3_ENST00000361227.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-ATP8_ENST00000361851.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TY_ENST00000387409.1_RNA|MT-TR_ENST00000387439.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	125					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						ACATACTTCCCCCATTATTCC	0.473																																					p.P125S		Atlas-SNP	.											.	.	.	.	0			c.C373T						PASS	.																																			SO:0001583	missense	5743	exon1			CTTCCCCCATTAT			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.373C>T	chrM.hg19:g.7958C>T	ENSP00000354876:p.Pro125Ser	29.0	0.0	.		89.0	11.0	.	ENST00000361739	Q37526	Missense_Mutation	SNP	ENST00000361739.1	hg19																																																																																				.	.	.	none		0.473	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024029	
TNPO1	3842	hgsc.bcm.edu	37	5	72192967	72192968	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr5:72192967_72192968insAG	ENST00000337273.5	+	20	2753_2754	c.2327_2328insAG	c.(2326-2331)ttagagfs	p.LE776fs	TNPO1_ENST00000506351.2_Frame_Shift_Ins_p.LE768fs|TNPO1_ENST00000454282.1_Frame_Shift_Ins_p.LE726fs|TNPO1_ENST00000523768.1_Frame_Shift_Ins_p.LE726fs	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	776					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAGACGTTGTTAGAGAATACAG	0.371																																					p.L776fs		Atlas-Indel,Pindel	.											.	TNPO1	90	.	0			c.2327_2328insAG						PASS	.																																			SO:0001589	frameshift_variant	3842	exon20			.	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.2330_2331dupAG	chr5.hg19:g.72192970_72192971dupAG	ENSP00000336712:p.Leu776fs	228.0	0.0	0		226.0	51.0	0.225664	NM_002270	B4DVC6|Q92957|Q92975	Frame_Shift_Ins	INS	ENST00000337273.5	hg19	CCDS43329.1																																																																																			.	.	.	none		0.371	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270	
UGT1A6	54578	hgsc.bcm.edu	37	2	234675730	234675741	+	In_Frame_Del	DEL	CTCTTTGGGATC	CTCTTTGGGATC	-	rs62625011		TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	CTCTTTGGGATC	CTCTTTGGGATC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:234675730_234675741delCTCTTTGGGATC	ENST00000305139.6	+	2	1051_1062	c.912_923delCTCTTTGGGATC	c.(910-924)ttctctttgggatca>tta	p.304_308FSLGS>L	UGT1A8_ENST00000305208.5_In_Frame_Del_p.305_309FSLGS>L|UGT1A6_ENST00000373424.1_In_Frame_Del_p.37_41FSLGS>L|UGT1A1_ENST00000608381.1_In_Frame_Del_p.306_310FSLGS>L|UGT1A5_ENST00000373414.3_In_Frame_Del_p.306_310FSLGS>L|UGT1A1_ENST00000360418.3_In_Frame_Del_p.305_309FSLGS>L|UGT1A1_ENST00000609637.1_In_Frame_Del_p.302_306FSLGS>L|UGT1A9_ENST00000354728.4_In_Frame_Del_p.302_306FSLGS>L|UGT1A4_ENST00000373409.3_In_Frame_Del_p.306_310FSLGS>L|UGT1A10_ENST00000344644.5_In_Frame_Del_p.302_306FSLGS>L|UGT1A1_ENST00000609767.1_In_Frame_Del_p.306_310FSLGS>L|UGT1A1_ENST00000373450.4_In_Frame_Del_p.302_306FSLGS>L|UGT1A10_ENST00000373445.1_In_Frame_Del_p.302_306FSLGS>L|UGT1A3_ENST00000482026.1_In_Frame_Del_p.306_310FSLGS>L|UGT1A6_ENST00000406651.1_In_Frame_Del_p.37_41FSLGS>L|UGT1A7_ENST00000373426.3_In_Frame_Del_p.302_306FSLGS>L|UGT1A1_ENST00000608383.1_In_Frame_Del_p.305_309FSLGS>L	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	304					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	TTGTGGTTTTCTCTTTGGGATCAATGGTCTCA	0.368																																					p.306_310del		Atlas-Indel,Pindel	.											.	UGT1A5	66	.	0			c.917_928del	GRCh37	CM941351	UGT1A1	M	rs62625011	PASS	.																																			SO:0001651	inframe_deletion	54579	exon2			.	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.912_923delCTCTTTGGGATC	chr2.hg19:g.234675730_234675741delCTCTTTGGGATC	ENSP00000303174:p.Phe304_Ser308delinsLeu	93.0	0.0	0		109.0	30.0	0.275229	NM_019078	A6NKK6|B8K289|Q96TE7	In_Frame_Del	DEL	ENST00000305139.6	hg19	CCDS2507.1																																																																																			.	.	.	none		0.368	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
PRAMEF1	65121	hgsc.bcm.edu	37	1	12854245	12854246	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:12854245_12854246insAA	ENST00000332296.7	+	3	572_573	c.469_470insAA	c.(469-471)gaafs	p.E157fs	PRAMEF1_ENST00000400814.3_5'Flank	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	157					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCTCAAGGAAATACCCCAG	0.495																																					p.E157fs		Atlas-Indel,Pindel	.											.	PRAMEF1	78	.	0			c.469_470insAA						PASS	.																																			SO:0001589	frameshift_variant	65121	exon3			.	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.470_471dupAA	chr1.hg19:g.12854246_12854247dupAA	ENSP00000332134:p.Glu157fs	165.0	0.0	0		168.0	12.0	0.0714286	NM_023013	Q9UQP2	Frame_Shift_Ins	INS	ENST00000332296.7	hg19	CCDS148.1																																																																																			.	.	.	none		0.495	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013	
MAP3K4	4216	hgsc.bcm.edu	37	6	161470102	161470103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	AG	AG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr6:161470102_161470103delAG	ENST00000392142.4	+	3	946_947	c.798_799delAG	c.(796-801)ttagagfs	p.E267fs	MAP3K4_ENST00000366920.2_Frame_Shift_Del_p.E267fs|MAP3K4_ENST00000366919.2_Frame_Shift_Del_p.E267fs|MAP3K4_ENST00000348824.7_Frame_Shift_Del_p.E267fs	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	267					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGATCTGGTTAGAGCTACAAGC	0.421																																					p.266_266del		Atlas-Indel,Pindel	.											.	MAP3K4	364	.	0			c.797_798del						PASS	.																																			SO:0001589	frameshift_variant	4216	exon3			.	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.798_799delAG	chr6.hg19:g.161470104_161470105delAG	ENSP00000375986:p.Glu267fs	233.0	0.0	0		187.0	57.0	0.304813	NM_006724	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Frame_Shift_Del	DEL	ENST00000392142.4	hg19	CCDS34565.1																																																																																			.	.	.	none		0.421	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
PON2	5445	hgsc.bcm.edu	37	7	95064242	95064247	+	In_Frame_Del	DEL	CCACAG	CCACAG	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	CCACAG	CCACAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr7:95064242_95064247delCCACAG	ENST00000222572.3	-	1	263_268	c.17_22delCTGTGG	c.(16-24)gctgtgggc>ggc	p.AV6del	PON2_ENST00000536183.1_In_Frame_Del_p.AV27del|PON2_ENST00000433091.2_In_Frame_Del_p.AV6del			Q15165	PON2_HUMAN	paraoxonase 2	6					aromatic compound catabolic process (GO:0019439)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arylesterase activity (GO:0004064)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09)		STAD - Stomach adenocarcinoma(171;0.0151)			CCCAGCAAGCCCACAGCCACCAGCCG	0.757																																					p.6_8del	GBM(42;803 823 13649 23368 31463)	Atlas-Indel,Pindel	.											.	PON2	32	.	0			c.18_23del						PASS	.																																			SO:0001651	inframe_deletion	5445	exon1			.	M63012, AF001601	CCDS5640.1, CCDS47644.1	7q21.3	2014-03-14			ENSG00000105854	ENSG00000105854	3.1.1.2	"""Paraoxonases"""	9205	protein-coding gene	gene with protein product	"""paraoxonase nirs"", ""arylesterase 2"""	602447				8661009, 9714608	Standard	XM_005250453		Approved		uc003unv.3	Q15165	OTTHUMG00000153948	ENST00000222572.3:c.17_22delCTGTGG	chr7.hg19:g.95064242_95064247delCCACAG	ENSP00000222572:p.Ala6_Val7del	101.0	0.0	0		101.0	18.0	0.178218	NM_000305	A4D1H7|B2RCP9|B4DJD5|O15114|O15115|O75856|Q5FBX7|Q86YL0	In_Frame_Del	DEL	ENST00000222572.3	hg19	CCDS5640.1																																																																																			.	.	.	none		0.757	PON2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333142.1	NM_000305	
SCNN1B	6338	hgsc.bcm.edu	37	16	23391419	23391421	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr16:23391419_23391421delGGA	ENST00000343070.2	+	12	1647_1649	c.1471_1473delGGA	c.(1471-1473)ggadel	p.G491del	SCNN1B_ENST00000568923.1_In_Frame_Del_p.G464del|SCNN1B_ENST00000307331.5_In_Frame_Del_p.G536del|SCNN1B_ENST00000568085.1_In_Frame_Del_p.G455del	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	491					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCAGGAAGGGAATTGTCAAGC	0.493																																					p.490_491del		Atlas-Indel,Pindel	.											.	SCNN1B	81	.	0			c.1470_1472del						PASS	.																																			SO:0001651	inframe_deletion	6338	exon12			.	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.1471_1473delGGA	chr16.hg19:g.23391419_23391421delGGA	ENSP00000345751:p.Gly491del	144.0	0.0	0		128.0	38.0	0.296875	NM_000336	C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	In_Frame_Del	DEL	ENST00000343070.2	hg19	CCDS10609.1																																																																																			.	.	.	none		0.493	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2		
GAPVD1	26130	hgsc.bcm.edu	37	9	128104522	128104522	+	Frame_Shift_Del	DEL	A	A	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr9:128104522delA	ENST00000495955.1	+	19	3280	c.2990delA	c.(2989-2991)gaafs	p.E997fs	GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.E971fs|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.E997fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.E976fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.E997fs|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.E1024fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	997					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGAAAGAAAGAAAAACAAGAA	0.408																																					p.E1024fs		Atlas-Indel,Pindel	.											.	GAPVD1	124	.	0			c.3070delG						PASS	.						115.0	117.0	116.0					9																	128104522		2203	4300	6503	SO:0001589	frameshift_variant	26130	exon18			.		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2990delA	chr9.hg19:g.128104522delA	ENSP00000419063:p.Glu997fs	43.0	0.0	0		66.0	26.0	0.393939	NM_015635	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	hg19																																																																																				.	.	.	none		0.408	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1		
BIRC6	57448	hgsc.bcm.edu	37	2	32740159	32740160	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr2:32740159_32740160insTC	ENST00000421745.2	+	55	10805_10806	c.10671_10672insTC	c.(10672-10674)tctfs	p.S3558fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3558					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CAAACTATTTTTCTTTGCTCAT	0.416																																					p.F3557fs	Pancreas(94;175 1509 16028 18060 45422)	Atlas-Indel,Pindel	.											.	BIRC6	838	.	0			c.10671_10672insTC						PASS	.																																			SO:0001589	frameshift_variant	57448	exon55			.	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10672_10673dupTC	chr2.hg19:g.32740160_32740161dupTC	ENSP00000393596:p.Ser3558fs	87.0	0.0	0		74.0	15.0	0.202703	NM_016252	Q9ULD1	Frame_Shift_Ins	INS	ENST00000421745.2	hg19	CCDS33175.2																																																																																			.	.	.	none		0.416	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
PRAMEF13	400736	hgsc.bcm.edu	37	1	13449601	13449601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WN-AB4C-01A-11D-A42J-10	TCGA-WN-AB4C-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	4f3eeaa4-6cb3-4b92-bdcb-4a9da48af742	b00bdf7f-b2b2-4333-add6-643ac5104d48	g.chr1:13449601delT	ENST00000376132.3	-	3	927	c.825delA	c.(823-825)aaafs	p.K275fs		NM_001024661.1	NP_001019832.1	Q5VWM6	PRA13_HUMAN	PRAME family member 13	275					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|large_intestine(1)|lung(3)|skin(2)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGATCAATTTTATTTTAA	0.458																																					p.L276X		Atlas-Indel,Pindel	.											.	PRAMEF13	10	.	0			c.826delT						PASS	.																																			SO:0001589	frameshift_variant	400736	exon3			.			1p36.21	2013-01-17			ENSG00000204495			"""-"""	13262	protein-coding gene	gene with protein product							Standard	NG_005159		Approved	OTTHUMG00000008034	uc010obi.1	Q5VWM6	OTTHUMG00000008034	ENST00000376132.3:c.825delA	chr1.hg19:g.13449601delT	ENSP00000365302:p.Lys275fs	144.0	0.0	0		135.0	20.0	0.148148	NM_001024661		Frame_Shift_Del	DEL	ENST00000376132.3	hg19	CCDS41257.1																																																																																			.	.	.	none		0.458	PRAMEF13-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022040.1	XM_375688	
